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

Selected Variant

1 paper

NM_001001895.3

p.D185Splc

c.554-541T>C

Surrounding Variants

1 paper

NM_001001895.3

p.D185Splc

c.554-365G>A

1 paper

NM_018961.4

p.T230N

c.689C>A

1 paper

NM_018961.4

p.P257L

c.770C>T

1 paper

NM_018961.4

p.A266T

c.796G>A

1 paper

NM_018961.4

p.Y218*

c.654C>A

1 paper

NM_018961.4

p.Y218*

c.654C>G

1 paper

NM_018961.4

p.S213F

c.638C>T

2 papers

NM_018961.4

p.G199V

c.596G>T

1 paper

NM_018961.4

p.Q279_T280Splc

c.838-18C>G

1 paper

NM_018961.4

p.S187S

c.561C>T

1 paper

NM_018961.4

p.G185G

c.555C>A

1 paper

NM_018961.4

p.T296M

c.887C>T