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

1–12 of 103 variants

10 papers

NM_005877.6

p.Y271C

c.812A>G

9 papers

NM_005877.6

p.A57S

c.169G>T

9 papers

NM_005877.6

p.M117I

c.351G>T

9 papers

NM_005877.6

p.M117I

c.351G>C

9 papers

NM_005877.6

p.M117I

c.351G>A

3 papers

NM_005877.6

p.Q122del1

c.364_365delCTG

3 papers

NM_005877.6

p.P558L

c.1673C>T

2 papers

NM_005877.6

p.G41delFs

c.122delC

2 papers

NM_005877.6

p.Q107*

c.319C>T

2 papers

NM_005877.6

p.E364_Q366del3

c.1090_1097del9

2 papers

NM_005877.6

p.K741N

c.2223G>T

2 papers

NM_005877.6

p.K741N

c.2223G>C