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.Y21N

c.61T>A

Surrounding Variants

1 paper

NM_006758.3

p.Y21*

c.63T>G

1 paper

NM_006758.3

p.Y21*

c.63T>A

1 paper

NM_006758.3

p.F20Y

c.59T>A

1 paper

NM_006758.3

p.K23R

c.68A>G

1 paper

NM_006758.3

p.C18G

c.52T>G

2 papers

NM_006758.3

p.I24V

c.70A>G

9 papers

NM_006758.3

p.I24T

c.71T>C

1 paper

NM_006758.3

p.N17K

c.51C>G

1 paper

NM_006758.3

p.N17K

c.51C>A

1 paper

NM_006758.3

p.V16A

c.47T>C

1 paper

NM_006758.3

p.V16D

c.47T>A

1 paper

NM_006758.3

p.V16I

c.46G>A