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

19 papers

NM_006758.3

p.D14G

c.41A>G

Surrounding Variants

1 paper

NM_006758.3

p.D14N

c.40G>A

1 paper

NM_006758.3

p.K15E

c.43A>G

1 paper

NM_006758.3

p.K15R

c.44A>G

1 paper

NM_006758.3

p.K13R

c.38A>G

1 paper

NM_006758.3

p.K15Splc

c.44+2T>G

1 paper

NM_006758.3

p.E12*

c.34G>T

1 paper

NM_006758.3

p.E12Q

c.34G>C

2 papers

NM_006758.3

p.G10R

c.28G>C

1 paper

NM_006758.3

p.E3insFs

c.8dupA

1 paper

NM_006758.3

p.M1_E3insFs

c.1_8dup8

1 paper

NM_006758.3

p.E3E

c.9G>A

1 paper

NM_006758.3

p.M1I

c.3G>T