Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.S646A

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.S646A
c.1936T>G
Surrounding Variants
1 paper
NM_001291867.2
p.T645I
c.1934C>T
1 paper
NM_198270.4
p.Q623fs
c.1867_1868fs
2 papers
NM_198270.4
p.Q623delFs
c.1867delC
1 paper
NM_001291867.2
p.D625E
c.1875T>A
2 papers
NM_001291867.2
p.Q623fs
c.1867_1868fs
3 papers
NM_001291867.2
p.Q623delFs
c.1867delC
1 paper
NM_001291867.2
p.M621fs
c.1861_1862fs
1 paper
NM_001291867.2
p.H620_M621insFs
c.1860_1861insA
1 paper
NM_001291867.2
p.M621delFs
c.1861_1862delAT
1 paper
NM_001291867.2
p.A672delFs
c.2016delC
2 papers
NM_001291867.2
p.S680N
c.2039G>A
1 paper
NM_001291867.2
p.T602A
c.1804A>G
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