Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.N896delFs

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
5 papers
NM_001291867.2
p.N896delFs
c.2687delA
Surrounding Variants
1 paper
NM_001291867.2
p.A895V
c.2684C>T
1 paper
NM_001291867.2
p.T897delFs
c.2690delC
1 paper
NM_001291867.2
p.T897fs
c.2689_2690fs
1 paper
NM_198270.4
p.R879*
c.2635C>T
1 paper
NM_198270.4
p.K868fs
c.2602_2603fs
1 paper
NM_001291867.2
p.L906fs
c.2716_2717fs
1 paper
NM_001291867.2
p.T908N
c.2723C>A
1 paper
NM_001291867.2
p.Q910_E911insFs
c.2730_2731ins5
1 paper
NM_001291867.2
p.E911ins2
c.2731_2732ins6
1 paper
NM_001291867.2
p.E911*
c.2731G>T
4 papers
NM_001291867.2
p.Q879*
c.2635C>T
1 paper
NM_001291867.2
p.S913A
c.2737T>G
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