Varaico: Literature-Extracted Genetic Variants

Gene:NME8
Variant:p.Q152Splc

NME8

123 papers

RefSeq Summary

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The se...

Pfam Domains

Thioredoxinaa 11–115UCSCThioredoxin
NDKaa 155–234UCSCNucleoside diphosphate kinase
NDKaa 316–452UCSCNucleoside diphosphate kinase
NDKaa 451–587UCSCNucleoside diphosphate kinase

Gene Aliases

HGNC Name

NME/NM23 family member 8

HGNC Previous Symbol

TXNDC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_016616.5
p.Q152Splc
c.454+1G>A
Surrounding Variants
1 paper
NM_016616.5
p.Q152*
c.454C>T
1 paper
NM_016616.5
p.P147L
c.440C>T
1 paper
NM_016616.5
p.D139V
c.416A>T
1 paper
NM_016616.5
p.D139N
c.415G>A
1 paper
NM_016616.5
p.D137V
c.410A>T
1 paper
NM_016616.5
p.P134T
c.400C>A
1 paper
NM_016616.5
p.P134S
c.400C>T
1 paper
NM_016616.5
p.Q152Splc
c.455-97A>T
1 paper
NM_016616.5
p.Q152Splc
c.455-46C>T
1 paper
NM_016616.5
p.L154*
c.461T>A
1 paper
NM_016616.5
p.K161_P162ins10
c.481_485ins30
1 paper
NM_016616.5
p.P162L
c.485C>T
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