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.E518K

c.1552G>A

Surrounding Variants

1 paper

NM_018961.4

p.P548L

c.1643C>T

1 paper

NM_018961.4

p.P554P

c.1662G>A

1 paper

NM_018961.4

p.E556K

c.1666G>A

1 paper

NM_018961.4

p.M562R

c.1685T>G

1 paper

NM_018961.4

p.T575T

c.1725C>T

1 paper

NM_018961.4

p.L600L

c.1800C>T

1 paper

NM_018961.4

p.L613L

c.1839C>T

1 paper

NM_018961.4

p.L620L

c.1858C>T

1 paper

NM_018961.4

p.M622T

c.1865T>C

NM_001243467.2

p.C512R

c.1534T>C

NM_001001895.3

p.M584T

c.1751T>C

1 paper

NM_018961.4

p.N638K

c.1914C>A

1 paper

NM_018961.4

p.N638K

c.1914C>G

1 paper

NM_018961.4

p.H646Q

c.1938C>A