Varaico: Literature-Extracted Genetic Variants

SF3B3

102 papers

RefSeq Summary

This gene encodes subunit 3 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

Beta-prop_RSE1_1staa 13–402UCSCRSE1/DDB1/CPSF1 first beta-propeller

Beta-prop_RSE1_2ndaa 444–767UCSCRSE1/DDB1/CPSF1 second beta-propeller

CPSF_Aaa 863–1184UCSCCPSF A subunit region

Gene Aliases

HGNC Name

splicing factor 3b subunit 3

HGNC Alias Symbols

SF3b130; RSE1; KIAA0017

Papers

RefSeq ID

Protein change

DNA change

1–12 of 115 variants

3 papers

NM_012426.5

p.R128G

c.382C>G

3 papers

NM_012426.5

p.M583L

c.1747A>C

3 papers

NM_012426.5

p.M583L

c.1747A>T

2 papers

NM_012426.5

p.N671S

c.2012A>G

2 papers

NM_012426.5

p.R728P

c.2183G>C

1 paper

NM_012426.5

p.A11S

c.31G>T

1 paper

NM_012426.5

p.N21K

c.63C>A

1 paper

NM_012426.5

p.N21K

c.63C>G

1 paper

NM_012426.5

p.Q28K

c.82C>A

1 paper

NM_012426.5

p.I30V

c.88A>G

1 paper

NM_012426.5

p.R34C

c.100C>T

1 paper

NM_012426.5

p.L38insFs

c.112dupT