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.D586_I596ins3

c.1756_1788dup33

Surrounding Variants

1 paper

NM_012433.4

p.I597V

c.1789A>G

1 paper

NM_012433.4

p.L582_S598ins5

c.1746_1793dup48

1 paper

NM_012433.4

p.N599D

c.1795A>G

1 paper

NM_012433.4

p.R594L

c.1781G>T

5 papers

NM_012433.4

p.R594Q

c.1781G>A

1 paper

NM_012433.4

p.L600*

c.1799T>A

1 paper

NM_012433.4

p.G593S

c.1777G>A

1 paper

NM_012433.4

p.E592fs

c.1774_1775fs

1 paper

NM_012433.4

p.E592delFs

c.1774delC

51 papers

NM_012433.4

p.E592K

c.1774G>A

1 paper

NM_012433.4

p.V591E

c.1772T>A

1 paper

NM_012433.4

p.V591M

c.1771G>A