Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.R59C

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.R59C
c.175C>T
Surrounding Variants
1 paper
NM_001291867.2
p.R59G
c.175C>G
1 paper
NM_001291867.2
p.A58D
c.173C>A
1 paper
NM_001291867.2
p.A60_V61insAGC
c.178_182ins9
1 paper
NM_001291867.2
p.A60V
c.179C>T
1 paper
NM_001291867.2
p.V61D
c.182T>A
1 paper
NM_001291867.2
p.V61V
c.183C>A
1 paper
NM_001291867.2
p.P62P
c.186T>A
1 paper
NM_001291867.2
p.P62P
c.186T>C
1 paper
NM_001291867.2
p.A63T
c.187G>A
2 papers
NM_001291867.2
p.A63A
c.189A>T
2 papers
NM_001291867.2
p.P54S
c.160C>T
1 paper
NM_001291867.2
p.P64L
c.191C>T
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