Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.S110P

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.S110P
c.328T>C
Surrounding Variants
1 paper
NM_001291867.2
p.A109A
c.327G>C
1 paper
NM_001291867.2
p.A109E
c.326C>A
1 paper
NM_001291867.2
p.A109S
c.325G>T
1 paper
NM_001291867.2
p.S111P
c.331T>C
1 paper
NM_001291867.2
p.S111A
c.331T>G
1 paper
NM_001291867.2
p.E108E
c.324G>A
1 paper
NM_001291867.2
p.E108D
c.324G>C
5 papers
NM_001291867.2
p.E108*
c.322G>T
1 paper
NM_001291867.2
p.G107G
c.321C>A
1 paper
NM_001291867.2
p.A112E
c.335C>A
1 paper
NM_001291867.2
p.A112V
c.335C>T
1 paper
NM_001291867.2
p.A114P
c.340G>C
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