Varaico: Literature-Extracted Genetic Variants

Gene:NHS

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
1–12 of 485 variants
11 papers
NM_001291867.2
p.Q39*
c.115C>T
8 papers
NM_001291867.2
p.R248*
c.742C>T
7 papers
NM_001291867.2
p.E186_A187insFs
c.558_559insA
6 papers
NM_001291867.2
p.R134delFs
c.400delC
6 papers
NM_001291867.2
p.P301S
c.901C>T
5 papers
NM_001291867.2
p.E108*
c.322G>T
5 papers
NM_001291867.2
p.Q158*
c.472C>T
5 papers
NM_001291867.2
p.E186*
c.556G>T
5 papers
NM_001291867.2
p.T284delFs
c.852delG
5 papers
NM_198270.4
p.R373*
c.1117C>T
5 papers
NM_001291867.2
p.N896delFs
c.2687delA
4 papers
NM_001291867.2
p.P37T
c.109C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."