Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.I867_S868insFs

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
2 papers
NM_001291867.2
p.I867_S868insFs
c.2601_2602insG
Surrounding Variants
2 papers
NM_001291867.2
p.S868insFs
c.2602_2603insG
1 paper
NM_198270.4
p.K850fs
c.2548_2549fs
1 paper
NM_001291867.2
p.E872G
c.2615A>G
1 paper
NM_198270.4
p.S840delFs
c.2519_2520delCT
4 papers
NM_001291867.2
p.Q879*
c.2635C>T
1 paper
NM_001291867.2
p.S855N
c.2564G>A
1 paper
NM_001291867.2
p.K848*
c.2542A>T
1 paper
NM_198270.4
p.K868fs
c.2602_2603fs
1 paper
NM_001291867.2
p.P845L
c.2534C>T
1 paper
NM_001291867.2
p.I840delFs
c.2519_2520delTC
1 paper
NM_001291867.2
p.A895V
c.2684C>T
5 papers
NM_001291867.2
p.N896delFs
c.2687delA
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