Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.R280_L283delFs

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.R280_L283delFs
c.838_847del10
Surrounding Variants
1 paper
NM_001291867.2
p.E276A
c.827A>C
1 paper
NM_001291867.2
p.E276Q
c.826G>C
1 paper
NM_001291867.2
p.T284fs
c.850_851fs
5 papers
NM_001291867.2
p.T284delFs
c.852delG
1 paper
NM_001291867.2
p.T284_F285Splc
c.852+1G>C
1 paper
NM_001291867.2
p.T284_F285Splc
c.852+2T>G
1 paper
NM_001291867.2
p.H270Y
c.808C>T
1 paper
NM_001291867.2
p.Y266*
c.798C>A
1 paper
NM_001291867.2
p.Y266F
c.797A>T
1 paper
NM_001291867.2
p.A265fs
c.793_794fs
4 papers
NM_001291867.2
p.P264delFs
c.792delA
3 papers
NM_001291867.2
p.P264fs
c.790_791fs
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