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

25 papers

NM_007279.3

p.L187V

c.559T>G

Surrounding Variants

1 paper

NM_007279.3

p.L187M

c.559T>A

3 papers

NM_007279.3

p.V186M

c.556G>A

3 papers

NM_007279.3

p.Q190_K195del6

c.568_584del18

1 paper

NM_007279.3

p.I191_N196del0

c.572_586del15

16 papers

NM_007279.3

p.Q190L

c.569A>T

1 paper

NM_007279.3

p.N192D

c.574A>G

1 paper

NM_007279.3

p.D194Y

c.580G>T

1 paper

NM_007279.3

p.K195R

c.584A>G

2 papers

NM_007279.3

p.L178fs

c.532_533fs

7 papers

NM_007279.3

p.N196K

c.588T>A

7 papers

NM_007279.3

p.N196K

c.588T>G

2 papers

NM_007279.3

p.G176E

c.527G>A