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

2 papers

NM_014832.5

p.S751A

c.2251T>G

Surrounding Variants

1 paper

NM_014832.5

p.T752A

c.2254A>G

1 paper

NM_014832.5

p.E756K

c.2266G>A

1 paper

NM_014832.5

p.G745R

c.2233G>A

1 paper

NM_014832.5

p.P783L

c.2348C>T

1 paper

NM_014832.5

p.D795Splc

c.2384-3C>T

2 papers

NM_014832.5

p.V819I

c.2455G>A

1 paper

NM_014832.5

p.K829N

c.2487G>T

1 paper

NM_014832.5

p.K829N

c.2487G>C

1 paper

NM_014832.5

p.W843G

c.2527T>G

1 paper

NM_014832.5

p.C885R

c.2653T>C

1 paper

NM_014832.5

p.I904I

c.2712C>T

1 paper

NM_014832.5

p.L915I

c.2743C>A