Varaico: Literature-Extracted Genetic Variants

Gene:NME6
Variant:p.S78R

NME6

15 papers

RefSeq Summary

Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynuc...

Pfam Domains

NDKaa 12–149UCSCNucleoside diphosphate kinase

Gene Aliases

HGNC Name

NME/NM23 nucleoside diphosphate kinase 6

HGNC Alias Symbols

NM23-H6; IPIA-ALPHA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001308426.2
p.S78R
c.232A>C
Surrounding Variants
1 paper
NM_001308426.2
p.S78R
c.234C>G
1 paper
NM_001308426.2
p.S78R
c.234C>A
1 paper
NM_001308426.2
p.I81S
c.242T>G
1 paper
NM_001308426.2
p.A91V
c.272C>T
1 paper
NM_001308426.2
p.P101_T102insFs
c.303_304insT
1 paper
NM_001308426.2
p.R108C
c.322C>T
1 paper
NM_001308426.2
p.R152H
c.455G>A
1 paper
NM_001308426.2
p.V73G
c.218T>G
1 paper
NM_001308426.2
p.P26_L27insFs
c.78_79insCA
1 paper
NM_001308426.2
p.A24T
c.70G>A
1 paper
NM_001308426.2
p.Q9E
c.25C>G
1 paper
NM_001308426.2
p.S7G
c.19A>G
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