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.R230Q

c.689G>A

Surrounding Variants

1 paper

NM_006758.3

p.S231P

c.691T>C

1 paper

NM_006758.3

p.R229K

c.686G>A

11 papers

NM_006758.3

p.S231L

c.692C>T

2 papers

NM_006758.3

p.R232K

c.695G>A

1 paper

NM_006758.3

p.D233E

c.699T>G

1 paper

NM_006758.3

p.D233E

c.699T>A

2 papers

NM_006758.3

p.R234C

c.700C>T

2 papers

NM_006758.3

p.E235Q

c.703G>C

1 paper

NM_006758.3

p.G238R

c.712G>C

1 paper

NM_006758.3

p.G238R

c.712G>A

1 paper

NM_006758.3

p.G217_G222del0

c.651_665del15

1 paper

NM_006758.3

p.G238E

c.713G>A