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

1 paper

NM_012426.5

p.E535E

c.1605G>A

Surrounding Variants

1 paper

NM_012426.5

p.R525Q

c.1574G>A

1 paper

NM_012426.5

p.Q518_V519Splc

c.1555-9T>G

1 paper

NM_012426.5

p.V494M

c.1480G>A

1 paper

NM_012426.5

p.V484V

c.1452G>A

3 papers

NM_012426.5

p.M583L

c.1747A>C

3 papers

NM_012426.5

p.M583L

c.1747A>T

1 paper

NM_012426.5

p.V588del1

c.1762_1763delGTG

1 paper

NM_012426.5

p.C641Y

c.1922G>A

1 paper

NM_012426.5

p.V643M

c.1927G>A

1 paper

NM_012426.5

p.S659L

c.1976C>T

1 paper

NM_012426.5

p.Y664*

c.1992C>A

1 paper

NM_012426.5

p.Y664*

c.1992C>G