Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.S257F

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.S257F
c.770C>T
Surrounding Variants
1 paper
NM_001291867.2
p.I258V
c.772A>G
2 papers
NM_001291867.2
p.L256fs
c.766_767fs
1 paper
NM_001291867.2
p.A259T
c.775G>A
2 papers
NM_001291867.2
p.L256insFs
c.766dupC
1 paper
NM_001291867.2
p.A253T
c.757G>A
1 paper
NM_001291867.2
p.P262L
c.785C>T
3 papers
NM_001291867.2
p.P264fs
c.790_791fs
4 papers
NM_001291867.2
p.P264delFs
c.792delA
1 paper
NM_001291867.2
p.Q250_R251insA
c.748_752ins3
1 paper
NM_001291867.2
p.A265fs
c.793_794fs
1 paper
NM_001291867.2
p.Y266F
c.797A>T
1 paper
NM_001291867.2
p.Y266*
c.798C>A
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