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.L142L

c.424C>T

Surrounding Variants

1 paper

NM_014832.5

p.Y141H

c.421T>C

1 paper

NM_014832.5

p.A140V

c.419C>T

1 paper

NM_014832.5

p.Q166_V167Splc

c.498+1G>C

1 paper

NM_014832.5

p.Q111*

c.331C>T

1 paper

NM_014832.5

p.T110M

c.329C>T

1 paper

NM_014832.5

p.G104insFs

c.311dupG

2 papers

NM_014832.5

p.G104fs

c.310_311fs

1 paper

NM_014832.5

p.G104A

c.311G>C

2 papers

NM_014832.5

p.A101V

c.302C>T

1 paper

NM_014832.5

p.F90S

c.269T>C

1 paper

NM_014832.5

p.R80L

c.239G>T

3 papers

NM_014832.5

p.Q67L

c.200A>T