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.C934G

c.2800T>G

Surrounding Variants

1 paper

NM_173602.3

p.Q919H

c.2757A>C

1 paper

NM_173602.3

p.Q919H

c.2757A>T

1 paper

NM_173602.3

p.Q919K

c.2755C>A

1 paper

NM_173602.3

p.I914T

c.2741T>C

1 paper

NM_173602.3

p.G951Splc

c.2851+119G>T

1 paper

NM_173602.3

p.V957M

c.2869G>A

1 paper

NM_173602.3

p.A969fs

c.2905_2906fs

1 paper

NM_173602.3

p.L976M

c.2926C>A

1 paper

NM_173602.3

p.Q978Q

c.2934A>G

2 papers

NM_173602.3

p.N982N

c.2946T>C

1 paper

NM_173602.3

p.K987_H988Splc

c.2961+5G>A

1 paper

NM_173602.3

p.Q989P

c.2966A>C