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.V577D

c.1730T>A

Surrounding Variants

3 papers

NM_012433.4

p.V576del1

c.1726_1727delCAC

1 paper

NM_012433.4

p.V577del1

c.1729_1730delGAC

1 paper

NM_012433.4

p.V576A

c.1727T>C

1 paper

NM_012433.4

p.V576M

c.1726G>A

2 papers

NM_012433.4

p.L575P

c.1724T>C

1 paper

NM_012433.4

p.L575I

c.1723C>A

2 papers

NM_012433.4

p.P580L

c.1739C>T

1 paper

NM_012433.4

p.P580Q

c.1739C>A

1 paper

NM_012433.4

p.K573_I574Splc

c.1720-1G>A

1 paper

NM_012433.4

p.L581P

c.1742T>C

1 paper

NM_012433.4

p.I583F

c.1747A>T

1 paper

NM_012433.4

p.D584N

c.1750G>A