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.S657F

c.1970C>T

Surrounding Variants

1 paper

NM_012433.4

p.S657C

c.1970C>G

3 papers

NM_012433.4

p.W658G

c.1972T>G

5 papers

NM_012433.4

p.W658R

c.1972T>C

4 papers

NM_012433.4

p.W658R

c.1972T>A

3 papers

NM_012433.4

p.W658L

c.1973G>T

5 papers

NM_012433.4

p.W658S

c.1973G>C

1 paper

NM_012433.4

p.W658*

c.1973G>A

9 papers

NM_012433.4

p.W658C

c.1974G>T

9 papers

NM_012433.4

p.W658C

c.1974G>C

1 paper

NM_012433.4

p.W658*

c.1974G>A

4 papers

NM_012433.4

p.Q659E

c.1975C>G

2 papers

NM_012433.4

p.Q659R

c.1976A>G