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

Selected Variant

1 paper

NM_007165.5

p.P265L

c.794C>T

Surrounding Variants

1 paper

NM_007165.5

p.P274H

c.821C>A

1 paper

NM_007165.5

p.P278H

c.833C>A

1 paper

NM_007165.5

p.R244Q

c.731G>A

1 paper

NM_007165.5

p.R244G

c.730C>G

1 paper

NM_007165.5

p.G240C

c.718G>T

1 paper

NM_007165.5

p.R232Q

c.695G>A

1 paper

NM_007165.5

p.P228H

c.683C>A

3 papers

NM_007165.5

p.H309_H316del0

c.927_947del21

1 paper

NM_007165.5

p.G226C

c.676G>T

1 paper

NM_007165.5

p.A225D

c.674C>A

1 paper

NM_007165.5

p.Q209P

c.626A>C

1 paper

NM_007165.5

p.P334del1

c.1000_1002delCCT