Varaico: Literature-Extracted Genetic Variants

Gene:NGDN
Variant:p.S142R

NGDN

67 papers

RefSeq Summary

Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung...

Pfam Domains

Sas10_Utp3aa 18–98UCSCSas10/Utp3/C1D family

Gene Aliases

HGNC Name

neuroguidin

HGNC Previous Symbol

C14orf120

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042635.2
p.S142R
c.424A>C
Surrounding Variants
1 paper
NM_001042635.2
p.S142R
c.426C>A
1 paper
NM_001042635.2
p.S142R
c.426C>G
1 paper
NM_001042635.2
p.D154E
c.462C>A
1 paper
NM_001042635.2
p.D154E
c.462C>G
1 paper
NM_001042635.2
p.P174L
c.521C>T
1 paper
NM_001042635.2
p.R175C
c.523C>T
1 paper
NM_001042635.2
p.P178P
c.534A>G
1 paper
NM_001042635.2
p.H133L
c.398A>T
1 paper
NM_001042635.2
p.L209F
c.625C>T
1 paper
NM_001042635.2
p.R129C
c.385C>T
1 paper
NM_001042635.2
p.E124A
c.371A>C
1 paper
NM_001042635.2
p.R221H
c.662G>A
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