Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.A130S

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.A130S
c.388G>T
Surrounding Variants
1 paper
NM_001291867.2
p.S128C
c.382A>T
6 papers
NM_001291867.2
p.R134delFs
c.400delC
1 paper
NM_001291867.2
p.A133A
c.399C>A
4 papers
NM_001291867.2
p.R134fs
c.400_401fs
1 paper
NM_001291867.2
p.R134fs
c.400_401fs
4 papers
NM_001291867.2
p.C125*
c.375C>A
1 paper
NM_001291867.2
p.R134P
c.401G>C
1 paper
NM_001291867.2
p.R134L
c.401G>T
1 paper
NM_001291867.2
p.C125Y
c.374G>A
1 paper
NM_001291867.2
p.R134R
c.402T>C
1 paper
NM_001291867.2
p.L136_R137del2
c.406_410del6
1 paper
NM_001291867.2
p.D123A
c.368A>C
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