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.I665V

c.1993A>G

Surrounding Variants

1 paper

NM_012433.4

p.I665F

c.1993A>T

1 paper

NM_012433.4

p.I665T

c.1994T>C

1 paper

NM_012433.4

p.G664D

c.1991G>A

5 papers

NM_012433.4

p.K666*

c.1996A>T

90 papers

NM_012433.4

p.K666E

c.1996A>G

64 papers

NM_012433.4

p.K666Q

c.1996A>C

1 paper

NM_012433.4

p.T663fs

c.1987_1988fs

1 paper

NM_012433.4

p.T663delFs

c.1987_1988delGT

42 papers

NM_012433.4

p.K666M

c.1997A>T

94 papers

NM_012433.4

p.K666R

c.1997A>G

139 papers

NM_012433.4

p.K666T

c.1997A>C

1 paper

NM_012433.4

p.K666insFs

c.1997_1998ins4