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

9 papers

NM_006758.3

p.I24T

c.71T>C

Surrounding Variants

2 papers

NM_006758.3

p.I24V

c.70A>G

1 paper

NM_006758.3

p.K23R

c.68A>G

12 papers

NM_006758.3

p.A26V

c.77C>T

1 paper

NM_006758.3

p.A26A

c.78A>C

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.Y21N

c.61T>A

1 paper

NM_006758.3

p.R28S

c.82C>A

1 paper

NM_006758.3

p.F20Y

c.59T>A

2 papers

NM_006758.3

p.H29N

c.85C>A

1 paper

NM_006758.3

p.H29P

c.86A>C

1 paper

NM_006758.3

p.G30A

c.89G>C