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

Selected Variant

2 papers

NM_012426.5

p.R728P

c.2183G>C

Surrounding Variants

1 paper

NM_012426.5

p.S717R

c.2151C>A

1 paper

NM_012426.5

p.S717R

c.2151C>G

1 paper

NM_012426.5

p.S717R

c.2149A>C

1 paper

NM_012426.5

p.A714V

c.2141C>T

1 paper

NM_012426.5

p.S747A

c.2239T>G

1 paper

NM_012426.5

p.A711_V712Splc

c.2134-8C>T

1 paper

NM_012426.5

p.E748G

c.2243A>G

1 paper

NM_012426.5

p.Q749H

c.2247G>C

1 paper

NM_012426.5

p.Q749H

c.2247G>T

1 paper

NM_012426.5

p.P751S

c.2251C>T

1 paper

NM_012426.5

p.P751P

c.2253C>A

1 paper

NM_012426.5

p.K700E

c.2098A>G