Varaico: Literature-Extracted Genetic Variants

Gene:NES
Variant:p.P1101L

NES

558 papers

RefSeq Summary

This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011].

Pfam Domains

Filamentaa 7–159UCSCIntermediate filament protein
Filamentaa 178–312UCSCIntermediate filament protein

Gene Aliases

HGNC Name

nestin

HGNC Alias Symbol

FLJ21841

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006617.2
p.P1101L
c.3302C>T
Surrounding Variants
2 papers
NM_006617.2
p.G1100_P1101del1
c.3300_3302delGGG
1 paper
NM_006617.2
p.Q1103E
c.3307C>G
1 paper
NM_006617.2
p.G1102_Q1103insFs
c.3306_3307ins10
1 paper
NM_006617.2
p.G1102_Q1103insFs
c.3306_3307ins11
1 paper
NM_006617.2
p.Q1103delFs
c.3307_3308delTG
1 paper
NM_006617.2
p.A1095V
c.3284C>T
1 paper
NM_006617.2
p.L1108delFs
c.3322_3323delAG
1 paper
NM_006617.2
p.D1110E
c.3330C>G
1 paper
NM_006617.2
p.E1081E
c.3243G>A
1 paper
NM_006617.2
p.A1078T
c.3232G>A
1 paper
NM_006617.2
p.E1126K
c.3376G>A
1 paper
NM_006617.2
p.E1130*
c.3388G>T
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