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

3 papers

NM_012433.4

p.Y623F

c.1868A>T

Surrounding Variants

72 papers

NM_012433.4

p.Y623C

c.1868A>G

6 papers

NM_012433.4

p.Y623H

c.1867T>C

135 papers

NM_012433.4

p.E622D

c.1866G>T

133 papers

NM_012433.4

p.E622D

c.1866G>C

1 paper

NM_012433.4

p.E622E

c.1866G>A

11 papers

NM_012433.4

p.E622V

c.1865A>T

3 papers

NM_012433.4

p.E622G

c.1865A>G

1 paper

NM_012433.4

p.E622*

c.1864G>T

12 papers

NM_012433.4

p.E622Q

c.1864G>C

1 paper

NM_012433.4

p.E622K

c.1864G>A

242 papers

NM_012433.4

p.R625C

c.1873C>T

66 papers

NM_012433.4

p.R625G

c.1873C>G