Varaico: Literature-Extracted Genetic Variants

Gene:NME4
Variant:p.V49M

NME4

50 papers

RefSeq Summary

The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri...

Pfam Domains

NDKaa 38–78UCSCNucleoside diphosphate kinase
NDKaa 38–172UCSCNucleoside diphosphate kinase

Gene Aliases

HGNC Name

NME/NM23 nucleoside diphosphate kinase 4

HGNC Alias Symbols

nm23-H4; NM23H4; NDPKD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005009.3
p.V49M
c.145G>A
Surrounding Variants
1 paper
NM_005009.3
p.D47N
c.139G>A
1 paper
NM_005009.3
p.V54D
c.161T>A
1 paper
NM_005009.3
p.V57M
c.169G>A
1 paper
NM_005009.3
p.T36T
c.108C>G
1 paper
NM_005009.3
p.R64Q
c.191G>A
1 paper
NM_005009.3
p.G65D
c.194G>A
1 paper
NM_005009.3
p.G65V
c.194G>T
1 paper
NM_005009.3
p.F66V
c.196T>G
1 paper
NM_005009.3
p.G31Splc
c.92-2A>G
1 paper
NM_005009.3
p.G70R
c.208G>A
1 paper
NM_005009.3
p.G70R
c.208G>C
1 paper
NM_005009.3
p.M71V
c.211A>G
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