Varaico: Literature-Extracted Genetic Variants

Gene:DIP2B
Variant:p.I1477I

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.I1477I
c.4431T>C
Surrounding Variants
1 paper
NM_173602.3
p.R1485W
c.4453C>T
1 paper
NM_173602.3
p.T1430A
c.4288A>G
1 paper
NM_173602.3
p.N1419I
c.4256A>T
1 paper
NM_173602.3
p.Y1405C
c.4214A>G
2 papers
NM_173602.3
p.Y1404*
c.4212C>A
2 papers
NM_173602.3
p.Y1404*
c.4212C>G
1 paper
NM_173602.3
p.N1500S
c.4499A>G
1 paper
NM_173602.3
p.E1507G
c.4520A>G
1 paper
NM_173602.3
p.V1534A
c.4601T>C
1 paper
NM_173602.3
p.G1535G
c.4605C>T
1 paper
NM_173602.3
p.V1539L
c.4615G>C
1 paper
NM_173602.3
p.V1539L
c.4615G>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."