Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.K170Q

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.K170Q
c.508A>C
Surrounding Variants
1 paper
NM_001291867.2
p.L171L
c.513C>T
1 paper
NM_001291867.2
p.Q168*
c.502C>T
1 paper
NM_001291867.2
p.G172G
c.516C>A
1 paper
NM_001291867.2
p.A166T
c.496G>A
1 paper
NM_001291867.2
p.W165delFs
c.494delG
2 papers
NM_001291867.2
p.R163R
c.489C>A
1 paper
NM_001291867.2
p.R162delFs
c.484delC
1 paper
NM_001291867.2
p.T180K
c.539C>A
1 paper
NM_001291867.2
p.L181I
c.541C>A
5 papers
NM_001291867.2
p.Q158*
c.472C>T
1 paper
NM_001291867.2
p.D156N
c.466G>A
1 paper
NM_001291867.2
p.S155R
c.465C>A
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