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.E760A

c.2279A>C

Surrounding Variants

1 paper

NM_012433.4

p.E760K

c.2278G>A

2 papers

NM_012433.4

p.M757T

c.2270T>C

4 papers

NM_012433.4

p.N763S

c.2288A>G

1 paper

NM_012433.4

p.P755fs

c.2263_2264fs

1 paper

NM_012433.4

p.Y765H

c.2293T>C

1 paper

NM_012433.4

p.P755delFs

c.2264delG

12 papers

NM_012433.4

p.Y765C

c.2294A>G

1 paper

NM_012433.4

p.Y764_Y765del1

c.2292_2294delTAG

1 paper

NM_012433.4

p.Y765del1

c.2293_2294delATA

1 paper

NM_012433.4

p.T766fs

c.2296_2297fs

1 paper

NM_012433.4

p.T766delFs

c.2298delA

1 paper

NM_012433.4

p.R767T

c.2300G>C