Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.T781delFs

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.T781delFs
c.2343delG
Surrounding Variants
1 paper
NM_001291867.2
p.S778A
c.2332T>G
1 paper
NM_001291867.2
p.H776_F777insFs
c.2328_2329insA
1 paper
NM_001291867.2
p.H776R
c.2327A>G
1 paper
NM_001291867.2
p.H776N
c.2326C>A
1 paper
NM_001291867.2
p.H776D
c.2326C>G
1 paper
NM_001291867.2
p.S787A
c.2359T>G
1 paper
NM_001291867.2
p.H789Y
c.2365C>T
2 papers
NM_001291867.2
p.S768L
c.2303C>T
2 papers
NM_001291867.2
p.P767S
c.2299C>T
4 papers
NM_001291867.2
p.G796insFs
c.2387_2388insC
1 paper
NM_198270.4
p.K744N
c.2232G>C
1 paper
NM_198270.4
p.K744N
c.2232G>T
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