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.Q698_V701delFs

c.2094_2101del8

Surrounding Variants

25 papers

NM_012433.4

p.V701F

c.2101G>T

2 papers

NM_012433.4

p.V701I

c.2101G>A

1 paper

NM_012433.4

p.Q698_K700del3

c.2092_2099del9

1 paper

NM_012433.4

p.R702W

c.2104C>T

1 paper

NM_012433.4

p.R702R

c.2104C>A

2 papers

NM_012433.4

p.K700N

c.2100A>T

2 papers

NM_012433.4

p.K700N

c.2100A>C

2 papers

NM_012433.4

p.Q698_K700del0

c.2094_2099del6

1 paper

NM_012433.4

p.R702P

c.2105G>C

1 paper

NM_012433.4

p.K700_R702del0

c.2099_2104del6

1 paper

NM_012433.4

p.K700I

c.2099A>T

1 paper

NM_012433.4

p.K700delins

c.2099delinsTTCT