Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.M621delFs

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.M621delFs
c.1861_1862delAT
Surrounding Variants
1 paper
NM_001291867.2
p.H620_M621insFs
c.1860_1861insA
1 paper
NM_001291867.2
p.M621fs
c.1861_1862fs
3 papers
NM_001291867.2
p.Q623delFs
c.1867delC
2 papers
NM_001291867.2
p.Q623fs
c.1867_1868fs
1 paper
NM_001291867.2
p.D625E
c.1875T>A
1 paper
NM_001291867.2
p.T602A
c.1804A>G
1 paper
NM_001291867.2
p.D601insFs
c.1802_1803insC
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.N599_S600insFs
c.1797_1798insA
1 paper
NM_001291867.2
p.N599fs
c.1795_1796fs
2 papers
NM_198270.4
p.Q623delFs
c.1867delC
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