Varaico: Literature-Extracted Genetic Variants

TBC1D4

154 papers

RefSeq Summary

This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a ca...

Pfam Domains

PIDaa 108–187UCSCPhosphotyrosine interaction domain (PTB/PID)

PIDaa 313–447UCSCPhosphotyrosine interaction domain (PTB/PID)

DUF3350aa 801–864UCSCDomain of unknown function (DUF3350)

RabGAP-TBCaa 921–1132UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 4

HGNC Alias Symbols

KIAA0603; AS160; DKFZp779C0666

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014832.5

p.K527*

c.1579A>T

Surrounding Variants

1 paper

NM_014832.5

p.N490D

c.1468A>G

1 paper

NM_014832.5

p.S550G

c.1648A>G

1 paper

NM_014832.5

p.T568A

c.1702A>G

2 papers

NM_014832.5

p.P457R

c.1370C>G

1 paper

NM_014832.5

p.P457Q

c.1370C>A

1 paper

NM_014832.5

p.P457A

c.1369C>G

1 paper

NM_014832.5

p.A436T

c.1306G>A