Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.L830V

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.L830V
c.2488T>G
Surrounding Variants
1 paper
NM_198270.4
p.H811fs
c.2431_2432fs
3 papers
NM_198270.4
p.Q806*
c.2416C>T
1 paper
NM_001291867.2
p.C824*
c.2472T>A
1 paper
NM_001291867.2
p.D823E
c.2469T>A
1 paper
NM_001291867.2
p.I840delFs
c.2519_2520delTC
1 paper
NM_001291867.2
p.P819S
c.2455C>T
1 paper
NM_198270.4
p.S797fs
c.2389_2390fs
2 papers
NM_001291867.2
p.G816G
c.2448G>C
2 papers
NM_001291867.2
p.G816R
c.2446G>A
2 papers
NM_001291867.2
p.V815I
c.2443G>A
1 paper
NM_001291867.2
p.P845L
c.2534C>T
2 papers
NM_001291867.2
p.G814D
c.2441G>A
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