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

54 papers

NM_012433.4

p.N626D

c.1876A>G

Surrounding Variants

22 papers

NM_012433.4

p.N626Y

c.1876A>T

8 papers

NM_012433.4

p.N626H

c.1876A>C

1 paper

NM_012433.4

p.N626I

c.1877A>T

18 papers

NM_012433.4

p.N626S

c.1877A>G

100 papers

NM_012433.4

p.R625L

c.1874G>T

7 papers

NM_012433.4

p.R625P

c.1874G>C

167 papers

NM_012433.4

p.R625H

c.1874G>A

242 papers

NM_012433.4

p.R625C

c.1873C>T

66 papers

NM_012433.4

p.R625G

c.1873C>G

12 papers

NM_012433.4

p.R625S

c.1873C>A

1 paper

NM_012433.4

p.T628S

c.1882A>T

3 papers

NM_012433.4

p.Y623F

c.1868A>T