Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_001291867.2
p.M1R
c.2T>G
1 paper
NM_001291867.2
p.M1L
c.1A>C
1 paper
NM_001291867.2
p.M1L
c.1A>T
1 paper
NM_001291867.2
p.M1delFs
c.2delT
1 paper
NM_001291867.2
p.M1I
c.3G>A
1 paper
NM_001291867.2
p.P2A
c.4C>G
1 paper
NM_001291867.2
p.P2S
c.4C>T
1 paper
NM_001291867.2
p.P2L
c.5C>T
1 paper
NM_001291867.2
p.F3I
c.7T>A
1 paper
NM_001291867.2
p.A4T
c.10G>A
1 paper
NM_001291867.2
p.A4D
c.11C>A
3 papers
NM_001291867.2
p.A4V
c.11C>T
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