Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.S680N

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
2 papers
NM_001291867.2
p.S680N
c.2039G>A
Surrounding Variants
1 paper
NM_001291867.2
p.A672delFs
c.2016delC
1 paper
NM_198270.4
p.H669delFs
c.2006delA
2 papers
NM_198270.4
p.H669fs
c.2005_2006fs
1 paper
NM_198270.4
p.H669P
c.2006A>C
1 paper
NM_001291867.2
p.P713_S721del0
c.2137_2163del27
1 paper
NM_001291867.2
p.S646A
c.1936T>G
1 paper
NM_001291867.2
p.T645I
c.1934C>T
1 paper
NM_001291867.2
p.S716N
c.2147G>A
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.Q736H
c.2208G>C
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