Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.P301S

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
6 papers
NM_001291867.2
p.P301S
c.901C>T
Surrounding Variants
1 paper
NM_001291867.2
p.T300T
c.900C>G
4 papers
NM_001291867.2
p.P301L
c.902C>T
1 paper
NM_001291867.2
p.C297S
c.890G>C
1 paper
NM_001291867.2
p.C297S
c.889T>A
1 paper
NM_001291867.2
p.K305R
c.914A>G
1 paper
NM_001291867.2
p.R289insFs
c.865_866insA
1 paper
NM_001291867.2
p.T288I
c.863C>T
1 paper
NM_001291867.2
p.N286S
c.857A>G
3 papers
NM_001291867.2
p.T284_F285Splc
c.853-1G>A
4 papers
NM_001291867.2
p.T284_F285Splc
c.853-2A>G
1 paper
NM_198270.4
p.T284_S285Splc
c.853-2A>G
3 papers
NM_198270.4
p.T284_S285Splc
c.853-1G>A
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