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

51 papers

NM_012433.4

p.T663I

c.1988C>T

Surrounding Variants

1 paper

NM_012433.4

p.T663fs

c.1987_1988fs

1 paper

NM_012433.4

p.T663delFs

c.1987_1988delGT

3 papers

NM_012433.4

p.T663A

c.1987A>G

17 papers

NM_012433.4

p.T663P

c.1987A>C

148 papers

NM_012433.4

p.H662Q

c.1986C>G

148 papers

NM_012433.4

p.H662Q

c.1986C>A

1 paper

NM_012433.4

p.G664D

c.1991G>A

2 papers

NM_012433.4

p.H662L

c.1985A>T

18 papers

NM_012433.4

p.H662R

c.1985A>G

27 papers

NM_012433.4

p.H662Y

c.1984C>T

72 papers

NM_012433.4

p.H662D

c.1984C>G

1 paper

NM_012433.4

p.I665F

c.1993A>T