Varaico: Literature-Extracted Genetic Variants

SF3B1

1,939 papers

RefSeq Summary

This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U...

Pfam Domains

SF3b1aa 329–452UCSCSplicing factor 3B subunit 1

PPP2R1A-like_HEATaa 1086–1165UCSCPPP2R1A-like HEAT repeat

Gene Aliases

HGNC Name

splicing factor 3b subunit 1

HGNC Alias Symbols

SAP155; SF3b155; PRPF10; Prp10; Hsh155

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012433.4

p.R661G

c.1981A>G

Surrounding Variants

1 paper

NM_012433.4

p.A660V

c.1979C>T

27 papers

NM_012433.4

p.H662Y

c.1984C>T

72 papers

NM_012433.4

p.H662D

c.1984C>G

2 papers

NM_012433.4

p.H662L

c.1985A>T

18 papers

NM_012433.4

p.H662R

c.1985A>G

148 papers

NM_012433.4

p.H662Q

c.1986C>G

148 papers

NM_012433.4

p.H662Q

c.1986C>A

2 papers

NM_012433.4

p.Q659R

c.1976A>G

4 papers

NM_012433.4

p.Q659E

c.1975C>G

3 papers

NM_012433.4

p.T663A

c.1987A>G

17 papers

NM_012433.4

p.T663P

c.1987A>C

9 papers

NM_012433.4

p.W658C

c.1974G>T