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.L449R

c.1346T>G

Surrounding Variants

2 papers

NM_007165.5

p.M441T

c.1322T>C

1 paper

NM_007165.5

p.M441delFs

c.1322delT

1 paper

NM_007165.5

p.M441fs

c.1321_1322fs

1 paper

NM_007165.5

p.G434R

c.1300G>A

1 paper

NM_007165.5

p.G434R

c.1300G>C

1 paper

NM_007165.5

p.N432S

c.1295A>G

1 paper

NM_007165.5

p.H408P

c.1223A>C

1 paper

NM_007165.5

p.H401Y

c.1201C>T

3 papers

NM_007165.5

p.A385T

c.1153G>A

1 paper

NM_007165.5

p.H373P

c.1118A>C

1 paper

NM_007165.5

p.P366H

c.1097C>A

1 paper

NM_007165.5

p.A361G

c.1082C>G