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

2 papers

NM_007165.5

p.P334_G335ins7

c.1002_1003ins21

Surrounding Variants

1 paper

NM_007165.5

p.G335ins7

c.1003_1004ins21

1 paper

NM_007165.5

p.P334del1

c.1000_1002delCCT

1 paper

NM_007165.5

p.P338fs

c.1012_1013fs

1 paper

NM_007165.5

p.A340T

c.1018G>A

1 paper

NM_007165.5

p.G342G

c.1026G>A

1 paper

NM_007165.5

p.V343G

c.1028T>G

1 paper

NM_007165.5

p.P345P

c.1035A>T

1 paper

NM_007165.5

p.G349R

c.1045G>A

1 paper

NM_007165.5

p.G349R

c.1045G>C

1 paper

NM_007165.5

p.A361G

c.1082C>G

1 paper

NM_007165.5

p.P366H

c.1097C>A

3 papers

NM_007165.5

p.H309_H316del0

c.927_947del21