Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.C565S

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.C565S
c.1694G>C
Surrounding Variants
1 paper
NM_001291867.2
p.C565S
c.1693T>A
2 papers
NM_001291867.2
p.L563M
c.1687C>A
1 paper
NM_001291867.2
p.L561L
c.1681T>C
1 paper
NM_001291867.2
p.S571C
c.1711A>T
3 papers
NM_198270.4
p.P551S
c.1651C>T
1 paper
NM_001291867.2
p.Q558*
c.1672C>T
1 paper
NM_001291867.2
p.Q573Q
c.1719G>A
1 paper
NM_001291867.2
p.H574P
c.1721A>C
1 paper
NM_001291867.2
p.K575Q
c.1723A>C
1 paper
NM_001291867.2
p.L576*
c.1727T>A
1 paper
NM_001291867.2
p.L576*
c.1727T>G
1 paper
NM_001291867.2
p.E578A
c.1733A>C
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