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

1 paper

NM_007279.3

p.D167E

c.501T>A

Surrounding Variants

1 paper

NM_007279.3

p.D167E

c.501T>G

1 paper

NM_007279.3

p.D167A

c.500A>C

1 paper

NM_007279.3

p.N170D

c.508A>G

1 paper

NM_007279.3

p.N170S

c.509A>G

1 paper

NM_007279.3

p.A171S

c.511G>T

1 paper

NM_007279.3

p.E163D

c.489G>C

1 paper

NM_007279.3

p.Q172*

c.514C>T

3 papers

NM_007279.3

p.L175fs

c.523_524fs

1 paper

NM_007279.3

p.L175delFs

c.524delT

3 papers

NM_007279.3

p.L175P

c.524T>C

2 papers

NM_007279.3

p.G176E

c.527G>A

2 papers

NM_007279.3

p.G176V

c.527G>T