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.T1090I

c.3269C>T

Surrounding Variants

1 paper

NM_014832.5

p.T1090S

c.3268A>T

2 papers

NM_014832.5

p.T1147M

c.3440C>T

2 papers

NM_014832.5

p.R1041H

c.3122G>A

1 paper

NM_014832.5

p.G1039S

c.3115G>A

1 paper

NM_014832.5

p.A1015D

c.3044C>A

1 paper

NM_014832.5

p.E1004K

c.3010G>A

1 paper

NM_014832.5

p.K1003R

c.3008A>G

1 paper

NM_014832.5

p.T976A

c.2926A>G

1 paper

NM_014832.5

p.T973A

c.2917A>G

2 papers

NM_014832.5

p.R972K

c.2915G>A

2 papers

NM_014832.5

p.V1163G

c.3488T>G

1 paper

NM_014832.5

p.D1167fs

c.3499_3500fs