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.R209H

c.626G>A

Surrounding Variants

1 paper

NM_006758.3

p.R211G

c.631C>G

1 paper

NM_006758.3

p.R211H

c.632G>A

1 paper

NM_006758.3

p.G212C

c.634G>T

1 paper

NM_006758.3

p.G212A

c.635G>C

5 papers

NM_006758.3

p.G213A

c.638G>C

1 paper

NM_006758.3

p.R203H

c.608G>A

3 papers

NM_006758.3

p.G216R

c.646G>C

1 paper

NM_006758.3

p.G216G

c.648C>T

1 paper

NM_006758.3

p.E201E

c.603G>A

1 paper

NM_006758.3

p.E201*

c.601G>T

1 paper

NM_006758.3

p.G218V

c.653G>T

1 paper

NM_006758.3

p.R200L

c.599G>T