Varaico: Literature-Extracted Genetic Variants

UBASH3A

85 papers

RefSeq Summary

This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate grow...

Pfam Domains

UBA_7aa 22–68UCSCUBA-like domain

SH3_9aa 283–337UCSCVariant SH3 domain

His_Phos_1aa 439–630UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

ubiquitin associated and SH3 domain containing A

HGNC Alias Symbols

STS-2; TULA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 93 variants

2 papers

NM_018961.4

p.G199V

c.596G>T

2 papers

NM_018961.4

p.R324Q

c.971G>A

2 papers

NM_018961.4

p.R349Splc

c.1047-5T>C

2 papers

NM_018961.4

p.R349Splc

c.1047-4G>A

2 papers

NM_018961.4

p.D466E

c.1398C>A

2 papers

NM_018961.4

p.D466E

c.1398C>G

1 paper

NM_018961.4

p.M1K

c.2T>A

1 paper

NM_018961.4

p.A2V

c.5C>T

1 paper

NM_018961.4

p.A3V

c.8C>T

1 paper

NM_018961.4

p.E5Q

c.13G>C

1 paper

NM_018961.4

p.L8I

c.22C>A

1 paper

NM_018961.4

p.V12_S13insFs

c.36_37insT