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

2 papers

NM_032873.5

p.V599I

c.1795G>A

Surrounding Variants

1 paper

NM_032873.5

p.R603fs

c.1807_1808fs

1 paper

NM_032873.5

p.R603Q

c.1808G>A

1 paper

NM_032873.5

p.I573I

c.1719T>A

1 paper

NM_032873.5

p.G568Splc

c.1703-4C>G

1 paper

NM_032873.5

p.K604_I605Splc

c.1813-2A>T

1 paper

NM_032873.5

p.V556G

c.1667T>G

1 paper

NM_032873.5

p.Y546C

c.1637A>G

1 paper

NM_032873.5

p.L646W

c.1937T>G

1 paper

NM_032873.5

p.E519V

c.1556A>T

1 paper

NM_032873.5

p.R494C

c.1480C>T

2 papers

NM_032873.5

p.V475I

c.1423G>A

2 papers

NM_032873.5

p.R473C

c.1417C>T