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_018961.4

p.K17E

c.49A>G

Surrounding Variants

1 paper

NM_018961.4

p.K17M

c.50A>T

1 paper

NM_018961.4

p.K17K

c.51G>A

1 paper

NM_018961.4

p.S18G

c.52A>G

1 paper

NM_018961.4

p.R19insFs

c.56_57ins13

1 paper

NM_018961.4

p.V12_S13insFs

c.36_37insT

1 paper

NM_018961.4

p.L8I

c.22C>A

1 paper

NM_018961.4

p.P27R

c.80C>G

1 paper

NM_018961.4

p.L28F

c.82C>T

1 paper

NM_018961.4

p.E5Q

c.13G>C

1 paper

NM_018961.4

p.A3V

c.8C>T

1 paper

NM_018961.4

p.A30A

c.90C>T

1 paper

NM_018961.4

p.A2V

c.5C>T