Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.S89fs

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.S89fs
c.265_266fs
Surrounding Variants
1 paper
NM_001291867.2
p.S89A
c.265T>G
1 paper
NM_001291867.2
p.A88V
c.263C>T
3 papers
NM_001291867.2
p.A88_S89delFs
c.263_266del4
1 paper
NM_001291867.2
p.E87E
c.261G>A
1 paper
NM_001291867.2
p.V90V
c.270G>C
1 paper
NM_001291867.2
p.E87Q
c.259G>C
1 paper
NM_001291867.2
p.G92C
c.274G>T
1 paper
NM_001291867.2
p.H85Q
c.255C>A
1 paper
NM_001291867.2
p.H85N
c.253C>A
1 paper
NM_001291867.2
p.E93*
c.277G>T
1 paper
NM_001291867.2
p.P84insFs
c.250_251insA
1 paper
NM_001291867.2
p.E94K
c.280G>A
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