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

10 papers

NM_005877.6

p.Y271C

c.812A>G

Surrounding Variants

1 paper

NM_005877.6

p.R257insFs

c.769_770insA

1 paper

NM_005877.6

p.R255C

c.763C>T

1 paper

NM_005877.6

p.R246P

c.737G>C

1 paper

NM_005877.6

p.T299S

c.895A>T

1 paper

NM_005877.6

p.T299P

c.895A>C

1 paper

NM_005877.6

p.T299S

c.896C>G

1 paper

NM_005877.6

p.P301L

c.902C>T

1 paper

NM_005877.6

p.E303Q

c.907G>C

1 paper

NM_005877.6

p.R307Q

c.920G>A

1 paper

NM_005877.6

p.R307fs

c.919_920fs

1 paper

NM_005877.6

p.R307_L309delFs

c.920_927del8

1 paper

NM_005877.6

p.A339V

c.1016C>T