Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E101K

NHS

703 papers

RefSeq Summary

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodelin...

Pfam Domains

NHSaa 190–1647UCSCNHS-like protein

Gene Aliases

HGNC Name

NHS actin remodeling regulator

HGNC Previous Name

Nance-Horan syndrome (congenital cataracts and dental anomalies)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001291867.2
p.E101K
c.301G>A
Surrounding Variants
1 paper
NM_001291867.2
p.E101Q
c.301G>C
3 papers
NM_001291867.2
p.E101insFs
c.302dupA
1 paper
NM_001291867.2
p.E101A
c.302A>C
1 paper
NM_001291867.2
p.A102fs
c.304_305fs
1 paper
NM_001291867.2
p.A102fs
c.304_305fs
1 paper
NM_001291867.2
p.A103T
c.307G>A
2 papers
NM_001291867.2
p.G98R
c.292G>A
1 paper
NM_001291867.2
p.G98R
c.292G>C
1 paper
NM_001291867.2
p.A105G
c.314C>G
1 paper
NM_001291867.2
p.A105V
c.314C>T
1 paper
NM_001291867.2
p.T96T
c.288G>A
1 paper
NM_001291867.2
p.G107G
c.321C>A
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