Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.D491H

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.D491H
c.1471G>C
Surrounding Variants
1 paper
NM_001291867.2
p.D488N
c.1462G>A
1 paper
NM_001291867.2
p.T502insFs
c.1504_1505insTA
1 paper
NM_001291867.2
p.G469R
c.1405G>C
1 paper
NM_001291867.2
p.G522delFs
c.1564delG
2 papers
NM_001291867.2
p.D453H
c.1357G>C
2 papers
NM_001291867.2
p.E530G
c.1589A>G
1 paper
NM_001291867.2
p.C449S
c.1346G>C
1 paper
NM_001291867.2
p.C449S
c.1345T>A
1 paper
NM_001291867.2
p.R445insFs
c.1334_1335insC
1 paper
NM_001291867.2
p.D537V
c.1610A>T
1 paper
NM_001291867.2
p.D537E
c.1611C>A
1 paper
NM_001291867.2
p.D537E
c.1611C>G
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