Varaico: Literature-Extracted Genetic Variants

UBASH3B

48 papers

RefSeq Summary

This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. T...

Pfam Domains

UBA_7aa 38–84UCSCUBA-like domain

SH3_9aa 261–315UCSCVariant SH3 domain

His_Phos_1aa 428–610UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

ubiquitin associated and SH3 domain containing B

HGNC Alias Symbols

KIAA1959; STS-1; TULA2; TULA-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032873.5

p.L92F

c.274C>T

Surrounding Variants

1 paper

NM_032873.5

p.G78G

c.234T>C

1 paper

NM_032873.5

p.S111*

c.332C>A

1 paper

NM_032873.5

p.S111S

c.333G>A

1 paper

NM_032873.5

p.K112T

c.335A>C

4 papers

NM_032873.5

p.A68T

c.202G>A

1 paper

NM_032873.5

p.K56E

c.166A>G

1 paper

NM_032873.5

p.A146A

c.438C>T

1 paper

NM_032873.5

p.K157T

c.470A>C

1 paper

NM_032873.5

p.P163P

c.489C>T

1 paper

NM_032873.5

p.D180H

c.538G>C

1 paper

NM_032873.5

p.I251V

c.751A>G