Varaico: Literature-Extracted Genetic Variants

SF3A2

61 papers

RefSeq Summary

This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP int...

Pfam Domains

zf-metaa 54–78UCSCZinc-finger of C2H2 type

SF3A2aa 112–206UCSCPre-mRNA-splicing factor SF3a complex subunit 2 (Prp11)

Gene Aliases

HGNC Name

splicing factor 3a subunit 2

HGNC Alias Symbols

SF3a66; SAP62; PRPF11; Prp11

Papers

RefSeq ID

Protein change

DNA change

1–12 of 50 variants

3 papers

NM_007165.5

p.H309_H316del0

c.927_947del21

3 papers

NM_007165.5

p.A385T

c.1153G>A

2 papers

NM_007165.5

p.P334_G335ins7

c.1002_1003ins21

2 papers

NM_007165.5

p.M441T

c.1322T>C

1 paper

NM_007165.5

p.H5R

c.14A>G

1 paper

NM_007165.5

p.T11T

c.33C>T

1 paper

NM_007165.5

p.R26C

c.76C>T

1 paper

NM_007165.5

p.L70L

c.210G>A

1 paper

NM_007165.5

p.A86A

c.258A>G

1 paper

NM_007165.5

p.A87V

c.260C>T

1 paper

NM_007165.5

p.K88R

c.263A>G

1 paper

NM_007165.5

p.G113S

c.337G>A