Varaico: Literature-Extracted Genetic Variants

SF3A1

116 papers

RefSeq Summary

This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nu...

Pfam Domains

Surpaa 50–101UCSCSurp module

Surpaa 164–215UCSCSurp module

PRP21_like_Paa 232–472UCSCPre-mRNA splicing factor PRP21 like protein

ubiquitinaa 717–788UCSCUbiquitin family

Gene Aliases

HGNC Name

splicing factor 3a subunit 1

HGNC Alias Symbols

SF3a120; SAP114; PRPF21; Prp21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005877.6

p.Q21R

c.62A>G

Surrounding Variants

1 paper

NM_005877.6

p.P11L

c.32C>T

2 papers

NM_005877.6

p.G41delFs

c.122delC

1 paper

NM_005877.6

p.N51S

c.152A>G

9 papers

NM_005877.6

p.A57S

c.169G>T

1 paper

NM_005877.6

p.S58I

c.173G>T