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

1–12 of 93 variants

39 papers

NM_014832.5

p.R684*

c.2050C>T

10 papers

NM_014832.5

p.R363*

c.1087C>T

7 papers

NM_014832.5

p.T642A

c.1924A>G

4 papers

NM_014832.5

p.R1249W

c.3745C>T

3 papers

NM_014832.5

p.Q67L

c.200A>T

2 papers

NM_014832.5

p.A101V

c.302C>T

2 papers

NM_014832.5

p.G104fs

c.310_311fs

2 papers

NM_014832.5

p.P457R

c.1370C>G

2 papers

NM_014832.5

p.S751A

c.2251T>G

2 papers

NM_014832.5

p.V819I

c.2455G>A

2 papers

NM_014832.5

p.R972K

c.2915G>A

2 papers

NM_014832.5

p.R1041H

c.3122G>A