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.Q260R

c.779A>G

Surrounding Variants

1 paper

NM_032873.5

p.F282S

c.845T>C

1 paper

NM_032873.5

p.T299M

c.896C>T

1 paper

NM_032873.5

p.G307*

c.919G>T

1 paper

NM_032873.5

p.Y313Y

c.939C>T

1 paper

NM_032873.5

p.T315I

c.944C>T

1 paper

NM_032873.5

p.T334I

c.1001C>T

1 paper

NM_032873.5

p.S336S

c.1008A>G

1 paper

NM_032873.5

p.Q355*

c.1063C>T

1 paper

NM_032873.5

p.P362H

c.1085C>A

1 paper

NM_032873.5

p.I251V

c.751A>G

1 paper

NM_032873.5

p.G380S

c.1138G>A

1 paper

NM_032873.5

p.C389C

c.1167T>C