Varaico: Literature-Extracted Genetic Variants

DIP2B

113 papers

RefSeq Summary

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated p...

Pfam Domains

DMAP_bindingaa 12–131UCSCDMAP1-binding Domain

AMP-bindingaa 346–764UCSCAMP-binding enzyme

AMP-bindingaa 995–1405UCSCAMP-binding enzyme

AMP-dom_DIP2-likeaa 1464–1571UCSCDisco-interacting protein 2-like, AMP domain

Gene Aliases

HGNC Name

disco interacting protein 2 homolog B

HGNC Alias Symbols

KIAA1463; FLJ34278

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_173602.3

p.T672M

c.2015C>T

Surrounding Variants

1 paper

NM_173602.3

p.S673F

c.2018C>T

1 paper

NM_173602.3

p.T639T

c.1917T>A

1 paper

NM_173602.3

p.Q742L

c.2225A>T

1 paper

NM_173602.3

p.G570V

c.1709G>T

1 paper

NM_173602.3

p.K562*

c.1684A>T

1 paper

NM_173602.3

p.V529A

c.1586T>C

1 paper

NM_173602.3

p.V529I

c.1585G>A

1 paper

NM_173602.3

p.Y518*

c.1554T>A

1 paper

NM_173602.3

p.Y518*

c.1554T>G

1 paper

NM_173602.3

p.E517_Y518Splc

c.1552-1G>C

1 paper

NM_173602.3

p.G820S

c.2458G>A

1 paper

NM_173602.3

p.V835G

c.2504T>G