Varaico: Literature-Extracted Genetic Variants

U2AF2

264 papers

RefSeq Summary

U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit ...

Pfam Domains

RRM_1aa 151–225UCSCRNA recognition motif

RRM_1aa 261–331UCSCRNA recognition motif

RRM_1aa 399–460UCSCRNA recognition motif

Gene Aliases

HGNC Name

U2 small nuclear RNA auxiliary factor 2

HGNC Alias Symbol

U2AF65

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_007279.3

p.R18W

c.52C>T

Surrounding Variants

1 paper

NM_007279.3

p.E17Splc

c.50-2A>G

1 paper

NM_007279.3

p.E21K

c.61G>A

1 paper

NM_007279.3

p.N22K

c.66C>A

1 paper

NM_007279.3

p.N22K

c.66C>G

1 paper

NM_007279.3

p.S28delFs

c.83_84delGC

1 paper

NM_007279.3

p.H29N

c.85C>A

2 papers

NM_007279.3

p.S32_R35del4

c.94_104del12

1 paper

NM_007279.3

p.S34_R35ins0

c.100_105dup6

1 paper

NM_007279.3

p.S34R

c.100A>C

1 paper

NM_007279.3

p.S34T

c.101G>C

1 paper

NM_007279.3

p.S34R

c.102C>A

1 paper

NM_007279.3

p.S34R

c.102C>G