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.Q157delins

c.469_470delinsGC

Surrounding Variants

1 paper

NM_006758.3

p.Q157L

c.470A>T

181 papers

NM_006758.3

p.Q157R

c.470A>G

232 papers

NM_006758.3

p.Q157P

c.470A>C

7 papers

NM_006758.3

p.Q157H

c.471G>T

7 papers

NM_006758.3

p.Q157H

c.471G>C

3 papers

NM_006758.3

p.Q157*

c.469C>T

1 paper

NM_006758.3

p.Q157K

c.469C>A

1 paper

NM_006758.3

p.Q157del1

c.469_470delCTG

91 papers

NM_006758.3

p.R156H

c.467G>A

1 paper

NM_006758.3

p.Y158F

c.473A>T

2 papers

NM_006758.3

p.R156C

c.466C>T

1 paper

NM_006758.3

p.R156G

c.466C>G