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.C33C

c.99C>T

Surrounding Variants

3 papers

NM_006758.3

p.S34A

c.100T>G

2 papers

NM_006758.3

p.S34P

c.100T>C

4 papers

NM_006758.3

p.S34T

c.100T>A

525 papers

NM_006758.3

p.S34F

c.101C>T

2 papers

NM_006758.3

p.S34C

c.101C>G

153 papers

NM_006758.3

p.S34Y

c.101C>A

1 paper

NM_006758.3

p.S34delins

c.100_102delinsCAA

1 paper

NM_006758.3

p.R32S

c.96G>T

1 paper

NM_006758.3

p.R32S

c.96G>C

51 papers

NM_006758.3

p.R35L

c.104G>T

11 papers

NM_006758.3

p.R35Q

c.104G>A

1 paper

NM_006758.3

p.R35R

c.105G>T