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

120 papers

NM_012433.4

p.G742D

c.2225G>A

Surrounding Variants

1 paper

NM_012433.4

p.G742fs

c.2224_2225fs

3 papers

NM_012433.4

p.L743F

c.2229G>T

1 paper

NM_012433.4

p.L743insFs

c.2228dupT

1 paper

NM_012433.4

p.L743fs

c.2227_2228fs

3 papers

NM_012433.4

p.L743F

c.2229G>C

1 paper

NM_012433.4

p.L743delFs

c.2228delA

13 papers

NM_012433.4

p.A744P

c.2230G>C

2 papers

NM_012433.4

p.A744T

c.2230G>A

2 papers

NM_012433.4

p.A744V

c.2231C>T

2 papers

NM_012433.4

p.A744D

c.2231C>A

1 paper

NM_012433.4

p.A745V

c.2234C>T

2 papers

NM_012433.4

p.F746V

c.2236T>G