Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.T972N

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
4 papers
NM_001291867.2
p.T972N
c.2915C>A
Surrounding Variants
1 paper
NM_001291867.2
p.E982A
c.2945A>C
2 papers
NM_198270.4
p.S972*
c.2915C>A
1 paper
NM_198270.4
p.S972*
c.2915C>G
1 paper
NM_001291867.2
p.L948F
c.2842C>T
1 paper
NM_001291867.2
p.P998A
c.2992C>G
1 paper
NM_001291867.2
p.S930L
c.2789C>T
1 paper
NM_001136024.4
p.G840delFs
c.2519_2520delGC
3 papers
NM_198270.4
p.L906fs
c.2716_2717fs
1 paper
NM_198270.4
p.Q905fs
c.2713_2714fs
1 paper
NM_198270.4
p.L906_D907delFs
c.2716_2719del4
2 papers
NM_198270.4
p.E903fs
c.2707_2708fs
1 paper
NM_001291867.2
p.K923M
c.2768A>T
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