Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.S1074delFs

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.S1074delFs
c.3222delA
Surrounding Variants
1 paper
NM_001291867.2
p.S1076R
c.3226A>C
1 paper
NM_001291867.2
p.T1072I
c.3215C>T
1 paper
NM_001291867.2
p.S1076R
c.3228T>A
1 paper
NM_001291867.2
p.S1076R
c.3228T>G
1 paper
NM_001291867.2
p.L1079delFs
c.3237delT
1 paper
NM_001291867.2
p.Q1065*
c.3193C>T
1 paper
NM_001291867.2
p.I1084L
c.3250A>C
1 paper
NM_001291867.2
p.S1061delFs
c.3182delC
1 paper
NM_001291867.2
p.D1090delFs
c.3270delT
1 paper
NM_001291867.2
p.K1055Q
c.3163A>C
1 paper
NM_001291867.2
p.L1094F
c.3280C>T
1 paper
NM_001291867.2
p.K1053R
c.3158A>G
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