Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E417K

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.E417K
c.1249G>A
Surrounding Variants
1 paper
NM_001291867.2
p.D416N
c.1246G>A
1 paper
NM_001291867.2
p.S415A
c.1243T>G
1 paper
NM_001291867.2
p.A421A
c.1263C>T
2 papers
NM_001291867.2
p.R422K
c.1265G>A
1 paper
NM_001291867.2
p.R424G
c.1270A>G
1 paper
NM_001291867.2
p.R424insFs
c.1271_1272insC
1 paper
NM_001291867.2
p.N439K
c.1317T>A
1 paper
NM_001291867.2
p.N439K
c.1317T>G
1 paper
NM_001291867.2
p.I441V
c.1321A>G
2 papers
NM_001291867.2
p.S442Y
c.1325C>A
1 paper
NM_001291867.2
p.R445insFs
c.1334_1335insC
1 paper
NM_001291867.2
p.C449S
c.1345T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."