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.G734fs

c.2200_2201fs

Surrounding Variants

1 paper

NM_012433.4

p.G734delFs

c.2201delC

1 paper

NM_012433.4

p.I735T

c.2204T>C

6 papers

NM_012433.4

p.R736C

c.2206C>T

2 papers

NM_012433.4

p.R736S

c.2206C>A

2 papers

NM_012433.4

p.R736H

c.2207G>A

2 papers

NM_012433.4

p.Q737K

c.2209C>A

1 paper

NM_012433.4

p.Q737Q

c.2211A>G

1 paper

NM_012433.4

p.H738Y

c.2212C>T

1 paper

NM_012433.4

p.H738R

c.2213A>G

1 paper

NM_012433.4

p.Q737del1

c.2209_2210delTTG

1 paper

NM_012433.4

p.R739G

c.2215A>G

1 paper

NM_012433.4

p.R739I

c.2216G>T