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.N87S

c.260A>G

Surrounding Variants

1 paper

NM_005877.6

p.K80R

c.239A>G

1 paper

NM_005877.6

p.K80Q

c.238A>C

2 papers

NM_005877.6

p.Q107*

c.319C>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

1 paper

NM_005877.6

p.R62Splc

c.186-20G>C

1 paper

NM_005877.6

p.Q122*

c.364C>T

3 papers

NM_005877.6

p.Q122del1

c.364_365delCTG

1 paper

NM_005877.6

p.Q135L

c.404A>T

1 paper

NM_005877.6

p.I141M

c.423C>G

1 paper

NM_005877.6

p.I153T

c.458T>C