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.A631fs

c.1891_1892fs

Surrounding Variants

2 papers

NM_012433.4

p.F632L

c.1894T>C

1 paper

NM_012433.4

p.A631G

c.1892C>G

1 paper

NM_012433.4

p.A631insFs

c.1891_1892ins32

1 paper

NM_012433.4

p.F632fs

c.1894_1895fs

2 papers

NM_012433.4

p.F632L

c.1896T>G

2 papers

NM_012433.4

p.F632L

c.1896T>A

1 paper

NM_012433.4

p.R630S

c.1890A>T

1 paper

NM_012433.4

p.R630S

c.1890A>C

1 paper

NM_012433.4

p.F632insFs

c.1894dupT

2 papers

NM_012433.4

p.R630K

c.1889G>A

1 paper

NM_012433.4

p.F632delFs

c.1896delA

9 papers

NM_012433.4

p.A633V

c.1898C>T