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

3 papers

NM_005877.6

p.P558L

c.1673C>T

Surrounding Variants

1 paper

NM_005877.6

p.I566T

c.1697T>C

1 paper

NM_005877.6

p.P550R

c.1649C>G

1 paper

NM_005877.6

p.P567fs

c.1699_1700fs

1 paper

NM_005877.6

p.A570V

c.1709C>T

1 paper

NM_005877.6

p.P571Q

c.1712C>A

1 paper

NM_005877.6

p.R578ins1

c.1733_1734insCCC

1 paper

NM_005877.6

p.R511Q

c.1532G>A

1 paper

NM_005877.6

p.G489C

c.1465G>T

1 paper

NM_005877.6

p.V479I

c.1435G>A

1 paper

NM_005877.6

p.G478S

c.1432G>A

1 paper

NM_005877.6

p.R473H

c.1418G>A

1 paper

NM_005877.6

p.R587C

c.1759C>T