Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.A20_P21ins1

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.A20_P21ins1
c.60_61insAGC
Surrounding Variants
1 paper
NM_001291867.2
p.P21T
c.61C>A
1 paper
NM_001291867.2
p.P19L
c.56C>T
1 paper
NM_001291867.2
p.P19S
c.55C>T
1 paper
NM_001291867.2
p.R18R
c.54C>A
1 paper
NM_001291867.2
p.R17Q
c.50G>A
1 paper
NM_001291867.2
p.D26N
c.76G>A
1 paper
NM_001291867.2
p.D26H
c.76G>C
1 paper
NM_001291867.2
p.D26A
c.77A>C
1 paper
NM_001291867.2
p.D26E
c.78C>A
1 paper
NM_001291867.2
p.D26E
c.78C>G
1 paper
NM_001291867.2
p.C14S
c.41G>C
1 paper
NM_001291867.2
p.C14S
c.40T>A
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