Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.A143T

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.A143T
c.427G>A
Surrounding Variants
1 paper
NM_001291867.2
p.V142A
c.425T>C
4 papers
NM_001291867.2
p.R144Q
c.431G>A
1 paper
NM_001291867.2
p.D141G
c.422A>G
1 paper
NM_001291867.2
p.S140*
c.419C>A
1 paper
NM_001291867.2
p.L136_R137del2
c.406_410del6
1 paper
NM_001291867.2
p.F150S
c.449T>C
1 paper
NM_001291867.2
p.R134R
c.402T>C
1 paper
NM_001291867.2
p.R134P
c.401G>C
1 paper
NM_001291867.2
p.R134L
c.401G>T
4 papers
NM_001291867.2
p.R134fs
c.400_401fs
1 paper
NM_001291867.2
p.R134fs
c.400_401fs
1 paper
NM_001291867.2
p.A133A
c.399C>A
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