Varaico: Literature-Extracted Genetic Variants

Gene:NME2
Variant:p.H51H

NME2

38 papers

RefSeq Summary

Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found fo...

Pfam Domains

NDKaa 5–139UCSCNucleoside diphosphate kinase

Gene Aliases

HGNC Name

NME/NM23 nucleoside diphosphate kinase 2

HGNC Alias Symbols

NM23-H2; NDPKB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002512.4
p.H51H
c.153C>T
Surrounding Variants
1 paper
NM_002512.4
p.Q50E
c.148C>G
2 papers
NM_002512.4
p.D54A
c.161A>C
1 paper
NM_002512.4
p.L55V
c.163C>G
1 paper
NM_002512.4
p.L48V
c.142C>G
1 paper
NM_002512.4
p.H47D
c.139C>G
1 paper
NM_002512.4
p.S44A
c.130T>G
1 paper
NM_002512.4
p.P62A
c.184C>G
1 paper
NM_002512.4
p.Y67F
c.200A>T
2 papers
NM_002512.4
p.N69H
c.205A>C
1 paper
NM_002512.4
p.S70S
c.210A>G
1 paper
NM_002512.4
p.G71V
c.212G>T
1 paper
NM_002512.4
p.R42Q
c.125G>A
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