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

2 papers

NM_018961.4

p.R349Splc

c.1047-4G>A

Surrounding Variants

2 papers

NM_018961.4

p.R349Splc

c.1047-5T>C

1 paper

NM_018961.4

p.L359V

c.1075C>G

1 paper

NM_018961.4

p.T392T

c.1176C>T

1 paper

NM_018961.4

p.R402H

c.1205G>A

1 paper

NM_018961.4

p.G404R

c.1210G>A

1 paper

NM_018961.4

p.G404R

c.1210G>C

1 paper

NM_018961.4

p.F411F

c.1233C>T

2 papers

NM_018961.4

p.R324Q

c.971G>A

1 paper

NM_018961.4

p.P434P

c.1302C>T

1 paper

NM_018961.4

p.G320insFs

c.958_959insTG

1 paper

NM_018961.4

p.V318A

c.953T>C

1 paper

NM_018961.4

p.R439T

c.1316G>C