Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.A76_P84del9

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.A76_P84del9
c.226_251del27
Surrounding Variants
1 paper
NM_001291867.2
p.A76E
c.227C>A
1 paper
NM_001291867.2
p.P75_A76delFs
c.224_227del4
1 paper
NM_001291867.2
p.P77L
c.230C>T
1 paper
NM_001291867.2
p.A78P
c.232G>C
3 papers
NM_001291867.2
p.P73T
c.217C>A
1 paper
NM_001291867.2
p.P73S
c.217C>T
1 paper
NM_001291867.2
p.D79N
c.235G>A
1 paper
NM_001291867.2
p.D79A
c.236A>C
1 paper
NM_001291867.2
p.D79E
c.237C>A
1 paper
NM_001291867.2
p.Q80L
c.239A>T
1 paper
NM_001291867.2
p.Q80Q
c.240G>A
1 paper
NM_001291867.2
p.L67L
c.201G>C
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