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.P646S

c.1936C>T

Surrounding Variants

1 paper

NM_012433.4

p.P646T

c.1936C>A

1 paper

NM_012433.4

p.P646delFs

c.1937delG

1 paper

NM_012433.4

p.F647Y

c.1940T>A

1 paper

NM_012433.4

p.L644fs

c.1930_1931fs

1 paper

NM_012433.4

p.L644delFs

c.1931delA

1 paper

NM_012433.4

p.F647fs

c.1939_1940fs

1 paper

NM_012433.4

p.S643C

c.1928C>G

1 paper

NM_012433.4

p.K649E

c.1945A>G

1 paper

NM_012433.4

p.K649R

c.1946A>G

2 papers

NM_012433.4

p.P642L

c.1925C>T

1 paper

NM_012433.4

p.K649fs

c.1945_1946fs

1 paper

NM_012433.4

p.K649insFs

c.1947dupA