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.I679F

c.2035A>T

Surrounding Variants

1 paper

NM_012433.4

p.I679fs

c.2035_2036fs

1 paper

NM_012433.4

p.A678insFs

c.2033dupC

2 papers

NM_012433.4

p.A678V

c.2033C>T

1 paper

NM_012433.4

p.A678T

c.2032G>A

1 paper

NM_012433.4

p.C677F

c.2030G>T

1 paper

NM_012433.4

p.P681S

c.2041C>T

2 papers

NM_012433.4

p.G676D

c.2027G>A

1 paper

NM_012433.4

p.A672_M675delFs

c.2015_2024del10

1 paper

NM_012433.4

p.H682L

c.2045A>T

1 paper

NM_012433.4

p.H682P

c.2045A>C

1 paper

NM_012433.4

p.H682fs

c.2044_2045fs

1 paper

NM_012433.4

p.Q669_H682del14

c.2005_2045del42