Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E186_A187insFs

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
7 papers
NM_001291867.2
p.E186_A187insFs
c.558_559insA
Surrounding Variants
1 paper
NM_001291867.2
p.A187fs
c.559_560fs
1 paper
NM_001291867.2
p.E186insFs
c.557dupA
5 papers
NM_001291867.2
p.E186*
c.556G>T
1 paper
NM_001291867.2
p.Q185K
c.553C>A
1 paper
NM_001291867.2
p.P189A
c.565C>G
1 paper
NM_001291867.2
p.L181I
c.541C>A
1 paper
NM_001291867.2
p.T180K
c.539C>A
1 paper
NM_001291867.2
p.G172G
c.516C>A
1 paper
NM_001291867.2
p.L171L
c.513C>T
1 paper
NM_001291867.2
p.K170Q
c.508A>C
1 paper
NM_001291867.2
p.Q168*
c.502C>T
1 paper
NM_001291867.2
p.A166T
c.496G>A
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