Varaico: Literature-Extracted Genetic Variants

Gene:NME7
Variant:p.R334Q

NME7

34 papers

RefSeq Summary

This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates ...

Pfam Domains

PH_NDK7_Naa 1–89UCSCNucleoside diphosphate kinase 7 N-terminal PH domain
NDKaa 92–226UCSCNucleoside diphosphate kinase
NDKaa 238–375UCSCNucleoside diphosphate kinase

Gene Aliases

HGNC Name

NME/NM23 family member 7

HGNC Alias Symbols

FLJ37194; NM23-H7; CFAP67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013330.5
p.R334Q
c.1001G>A
Surrounding Variants
1 paper
NM_013330.5
p.R334insFs
c.1001_1002ins4
1 paper
NM_013330.5
p.A333_R334insFs
c.998_1001dup4
1 paper
NM_013330.5
p.R337H
c.1010G>A
1 paper
NM_013330.5
p.N352D
c.1054A>G
1 paper
NM_013330.5
p.P360L
c.1079C>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."