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.F196L

c.588T>A

Surrounding Variants

1 paper

NM_014832.5

p.D223N

c.667G>A

1 paper

NM_014832.5

p.R244C

c.730C>T

1 paper

NM_014832.5

p.P246A

c.736C>G

1 paper

NM_014832.5

p.E250K

c.748G>A

1 paper

NM_014832.5

p.P260S

c.778C>T

1 paper

NM_014832.5

p.A271G

c.812C>G

1 paper

NM_014832.5

p.R315W

c.943C>T

1 paper

NM_014832.5

p.H327Y

c.979C>T

1 paper

NM_014832.5

p.E352D

c.1056G>T

1 paper

NM_014832.5

p.E352D

c.1056G>C

10 papers

NM_014832.5

p.R363*

c.1087C>T

1 paper

NM_014832.5

p.F382V

c.1144T>G