Varaico: Literature-Extracted Genetic Variants

U2AF1

939 papers

RefSeq Summary

This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA br...

Pfam Domains

zf-CCCHaa 13–39UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

RRM_1aa 82–141UCSCRNA recognition motif

Gene Aliases

HGNC Name

U2 small nuclear RNA auxiliary factor 1

HGNC Previous Symbol

U2AFBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006758.3

p.R200ins2

c.598_599ins6

Surrounding Variants

1 paper

NM_006758.3

p.R200W

c.598C>T

1 paper

NM_006758.3

p.R200L

c.599G>T

2 papers

NM_006758.3

p.S199F

c.596C>T

1 paper

NM_006758.3

p.S199C

c.596C>G

1 paper

NM_006758.3

p.E201*

c.601G>T

3 papers

NM_006758.3

p.R198Q

c.593G>A

1 paper

NM_006758.3

p.E201E

c.603G>A

1 paper

NM_006758.3

p.R198*

c.592C>T

1 paper

NM_006758.3

p.R203H

c.608G>A

2 papers

NM_006758.3

p.R196*

c.586A>T

2 papers

NM_006758.3

p.R196G

c.586A>G

1 paper

NM_006758.3

p.R209H

c.626G>A