Varaico: Literature-Extracted Genetic Variants

Gene:DIP2B
Variant:p.S850Y

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
1 paper
NM_173602.3
p.S850Y
c.2549C>A
Surrounding Variants
1 paper
NM_173602.3
p.S874G
c.2620A>G
1 paper
NM_173602.3
p.R845Splc
c.2534+82G>C
1 paper
NM_173602.3
p.V835G
c.2504T>G
1 paper
NM_173602.3
p.G820S
c.2458G>A
1 paper
NM_173602.3
p.I914T
c.2741T>C
1 paper
NM_173602.3
p.Q919K
c.2755C>A
1 paper
NM_173602.3
p.Q919H
c.2757A>C
1 paper
NM_173602.3
p.Q919H
c.2757A>T
2 papers
NM_173602.3
p.C934G
c.2800T>G
1 paper
NM_173602.3
p.G951Splc
c.2851+119G>T
1 paper
NM_173602.3
p.Q742L
c.2225A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."