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

6 papers

NM_012433.4

p.K741Q

c.2221A>C

Surrounding Variants

9 papers

NM_012433.4

p.K741E

c.2221A>G

1 paper

NM_012433.4

p.G740del1

c.2218_2219delTCC

1 paper

NM_012433.4

p.K741R

c.2222A>G

3 papers

NM_012433.4

p.K741T

c.2222A>C

1 paper

NM_012433.4

p.G740fs

c.2218_2219fs

1 paper

NM_012433.4

p.G740delFs

c.2219delC

22 papers

NM_012433.4

p.K741N

c.2223G>T

6 papers

NM_012433.4

p.G740V

c.2219G>T

1 paper

NM_012433.4

p.K741fs

c.2221_2222fs

22 papers

NM_012433.4

p.K741N

c.2223G>C

1 paper

NM_012433.4

p.G740A

c.2219G>C

72 papers

NM_012433.4

p.G740E

c.2219G>A