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

1–12 of 47 variants

4 papers

NM_032873.5

p.A68T

c.202G>A

2 papers

NM_032873.5

p.R473C

c.1417C>T

2 papers

NM_032873.5

p.V475I

c.1423G>A

2 papers

NM_032873.5

p.V599I

c.1795G>A

1 paper

NM_032873.5

p.G33R

c.97G>C

1 paper

NM_032873.5

p.T34I

c.101C>T

1 paper

NM_032873.5

p.L44I

c.130C>A

1 paper

NM_032873.5

p.M47V

c.139A>G

1 paper

NM_032873.5

p.K56E

c.166A>G

1 paper

NM_032873.5

p.G78G

c.234T>C

1 paper

NM_032873.5

p.L92F

c.274C>T

1 paper

NM_032873.5

p.S111*

c.332C>A