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.I787fs

c.2359_2360fs

Surrounding Variants

1 paper

NM_012433.4

p.I787insFs

c.2359dupA

1 paper

NM_012433.4

p.I787S

c.2360T>G

5 papers

NM_012433.4

p.I787Fs

c.2359_2360delinsTFs

1 paper

NM_012433.4

p.K786_I787delFs

c.2358_2359delTT

1 paper

NM_012433.4

p.K785_I787del0

c.2353_2361del9

1 paper

NM_012433.4

p.V788A

c.2363T>C

2 papers

NM_012433.4

p.I787fs

c.2359_2360fs

1 paper

NM_012433.4

p.I787F

c.2359A>T

1 paper

NM_012433.4

p.K786N

c.2358A>T

1 paper

NM_012433.4

p.K786N

c.2358A>C

1 paper

NM_012433.4

p.K786fs

c.2356_2357fs

1 paper

NM_012433.4

p.K786*

c.2356A>T