Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.A117V

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.A117V
c.350C>T
Surrounding Variants
1 paper
NM_001291867.2
p.A117A
c.351C>A
1 paper
NM_001291867.2
p.V118L
c.352G>C
1 paper
NM_001291867.2
p.A115A
c.345G>A
1 paper
NM_001291867.2
p.L119Q
c.356T>A
1 paper
NM_001291867.2
p.A114P
c.340G>C
1 paper
NM_001291867.2
p.A112E
c.335C>A
1 paper
NM_001291867.2
p.A112V
c.335C>T
1 paper
NM_001291867.2
p.D123N
c.367G>A
1 paper
NM_001291867.2
p.D123A
c.368A>C
1 paper
NM_001291867.2
p.S111P
c.331T>C
1 paper
NM_001291867.2
p.S111A
c.331T>G
1 paper
NM_001291867.2
p.S110P
c.328T>C
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