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.R625G

c.1873A>G

Surrounding Variants

1 paper

NM_005877.6

p.R625S

c.1875A>T

1 paper

NM_005877.6

p.R625S

c.1875A>C

1 paper

NM_005877.6

p.V629M

c.1885G>A

1 paper

NM_005877.6

p.M631V

c.1891A>G

1 paper

NM_005877.6

p.M617T

c.1850T>C

1 paper

NM_005877.6

p.A615T

c.1843G>A

1 paper

NM_005877.6

p.P636P

c.1908T>C

1 paper

NM_005877.6

p.R642P

c.1925G>C

1 paper

NM_005877.6

p.P643insFs

c.1928_1929ins11

1 paper

NM_005877.6

p.P643fs

c.1927_1928fs

1 paper

NM_005877.6

p.M646L

c.1936A>T

1 paper

NM_005877.6

p.M646L

c.1936A>C