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.E782G

c.2345A>G

Surrounding Variants

1 paper

NM_012433.4

p.E782A

c.2345A>C

1 paper

NM_012433.4

p.E782Q

c.2344G>C

10 papers

NM_012433.4

p.D781E

c.2343T>G

10 papers

NM_012433.4

p.D781E

c.2343T>A

1 paper

NM_012433.4

p.E783Q

c.2347G>C

11 papers

NM_012433.4

p.E783K

c.2347G>A

41 papers

NM_012433.4

p.D781G

c.2342A>G

3 papers

NM_012433.4

p.E783G

c.2348A>G

1 paper

NM_012433.4

p.E783delFs

c.2347delC

3 papers

NM_012433.4

p.D781N

c.2341G>A

1 paper

NM_012433.4

p.E783fs

c.2347_2348fs

1 paper

NM_012433.4

p.M784V

c.2350A>G