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.V668A

c.2003T>C

Surrounding Variants

1 paper

NM_012433.4

p.Q669K

c.2005C>A

1 paper

NM_012433.4

p.Q669H

c.2007A>T

1 paper

NM_012433.4

p.Q669H

c.2007A>C

284 papers

NM_012433.4

p.K666N

c.1998G>T

285 papers

NM_012433.4

p.K666N

c.1998G>C

2 papers

NM_012433.4

p.Q670E

c.2008C>G

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

1 paper

NM_012433.4

p.K666delins

c.1996_1997delinsCC

2 papers

NM_012433.4

p.Q670H

c.2010G>T