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.I774L

c.2320A>C

Surrounding Variants

7 papers

NM_012433.4

p.L773R

c.2318T>G

1 paper

NM_012433.4

p.L773H

c.2318T>A

5 papers

NM_012433.4

p.R775G

c.2323C>G

6 papers

NM_012433.4

p.R775L

c.2324G>T

1 paper

NM_012433.4

p.R775insFs

c.2324_2325ins8

3 papers

NM_012433.4

p.R775P

c.2324G>C

6 papers

NM_012433.4

p.R775Q

c.2324G>A

1 paper

NM_012433.4

p.E776G

c.2327A>G

1 paper

NM_012433.4

p.E776A

c.2327A>C

3 papers

NM_012433.4

p.E776D

c.2328A>T

3 papers

NM_012433.4

p.E776D

c.2328A>C

1 paper

NM_012433.4

p.M770I

c.2310G>T