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

1–12 of 1318 variants

842 papers

NM_012433.4

p.K700E

c.2098A>G

285 papers

NM_012433.4

p.K666N

c.1998G>C

284 papers

NM_012433.4

p.K666N

c.1998G>T

242 papers

NM_012433.4

p.R625C

c.1873C>T

167 papers

NM_012433.4

p.R625H

c.1874G>A

148 papers

NM_012433.4

p.H662Q

c.1986C>G

148 papers

NM_012433.4

p.H662Q

c.1986C>A

139 papers

NM_012433.4

p.K666T

c.1997A>C

135 papers

NM_012433.4

p.E622D

c.1866G>T

133 papers

NM_012433.4

p.E622D

c.1866G>C

120 papers

NM_012433.4

p.G742D

c.2225G>A

100 papers

NM_012433.4

p.R625L

c.1874G>T