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.T1147M

c.3440C>T

Surrounding Variants

1 paper

NM_014832.5

p.T1090I

c.3269C>T

1 paper

NM_014832.5

p.T1090S

c.3268A>T

2 papers

NM_014832.5

p.V1163G

c.3488T>G

1 paper

NM_014832.5

p.D1167fs

c.3499_3500fs

1 paper

NM_014832.5

p.L1186F

c.3556C>T

1 paper

NM_014832.5

p.D1195N

c.3583G>A

1 paper

NM_014832.5

p.N1206S

c.3617A>G

1 paper

NM_014832.5

p.A1223S

c.3667G>T

1 paper

NM_014832.5

p.E1241K

c.3721G>A

4 papers

NM_014832.5

p.R1249W

c.3745C>T

1 paper

NM_014832.5

p.V1275A

c.3824T>C

2 papers

NM_014832.5

p.R1041H

c.3122G>A