Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.Q905fs

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_198270.4
p.Q905fs
c.2713_2714fs
Surrounding Variants
1 paper
NM_198270.4
p.L906_D907delFs
c.2716_2719del4
3 papers
NM_198270.4
p.L906fs
c.2716_2717fs
2 papers
NM_198270.4
p.E903fs
c.2707_2708fs
1 paper
NM_001291867.2
p.K923M
c.2768A>T
1 paper
NM_198270.4
p.E903delFs
c.2707delG
1 paper
NM_001291867.2
p.S930L
c.2789C>T
1 paper
NM_001291867.2
p.Q917*
c.2749C>T
1 paper
NM_198270.4
p.Q896delFs
c.2687delA
1 paper
NM_198270.4
p.Q896fs
c.2686_2687fs
1 paper
NM_001291867.2
p.S913delFs
c.2739delT
1 paper
NM_001291867.2
p.S913A
c.2737T>G
1 paper
NM_001291867.2
p.E911ins2
c.2731_2732ins6
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