Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.D601insFs

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.D601insFs
c.1802_1803insC
Surrounding Variants
1 paper
NM_001291867.2
p.D601N
c.1801G>A
1 paper
NM_001291867.2
p.D601fs
c.1801_1802fs
1 paper
NM_001291867.2
p.T602A
c.1804A>G
1 paper
NM_001291867.2
p.N599_S600insFs
c.1797_1798insA
1 paper
NM_001291867.2
p.N599fs
c.1795_1796fs
1 paper
NM_001291867.2
p.S597_S598del2
c.1789_1793del6
1 paper
NM_001291867.2
p.S593G
c.1777A>G
1 paper
NM_001291867.2
p.G592A
c.1775G>C
1 paper
NM_198270.4
p.R565*
c.1693C>T
1 paper
NM_001291867.2
p.S582*
c.1745C>A
1 paper
NM_001291867.2
p.S582*
c.1745C>G
1 paper
NM_001291867.2
p.H620_M621insFs
c.1860_1861insA
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