2QQ8.A | TBC1D14

General Structure Information

PDB ID 2qq8
HGNC Gene Label(s) TBC1D14
Structure Name crystal structure of the putative rabgap domain of human tbc1 domain family member 14
Resolution 2.0Å
Reference AUTH Y.TONG,W.TEMPEL,S.DIMOV,R.LANDRY,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,M.SUNDSTROM,J.WEIGELT,A.BOCHKAREV,AUTH 3 H.PARKTITL CRYSTAL STRUCTURE OF THE PUTATIVE RABGAP DOMAIN OFTITL 2 HUMAN TBC1 DOMAIN FAMILY MEMBER 14.REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 284
Number Of SNVs 59
Number Of Permutations 25020
Optimal Distance Threshold 7.0
K Statistic 0.032
p-value 0.886
COSMIC

Number Of Residues 284
Number Of SNVs 3
Number Of Permutations 162
Optimal Distance Threshold 16.0
K Statistic 0.667
p-value 0.189

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 59
Number Of COSMIC SNVs 3
Optimal Distance Threshold 23.0
K Statistic 0.591
p-value 0.199

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants