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.A604T

c.1810G>A

Surrounding Variants

2 papers

NM_012433.4

p.G605S

c.1813G>A

1 paper

NM_012433.4

p.A603T

c.1807G>A

2 papers

NM_012433.4

p.G605V

c.1814G>T

1 paper

NM_012433.4

p.G605D

c.1814G>A

1 paper

NM_012433.4

p.K602_A603Splc

c.1807-8C>T

1 paper

NM_012433.4

p.T608A

c.1822A>G

1 paper

NM_012433.4

p.M609L

c.1825A>T

1 paper

NM_012433.4

p.M609T

c.1826T>C

3 papers

NM_012433.4

p.S611F

c.1832C>T

2 papers

NM_012433.4

p.S611C

c.1832C>G

1 paper

NM_012433.4

p.T612N

c.1835C>A

2 papers

NM_012433.4

p.M613V

c.1837A>G