Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.R43P

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.R43P
c.128G>C
Surrounding Variants
1 paper
NM_001291867.2
p.R43Q
c.128G>A
1 paper
NM_001291867.2
p.R43R
c.129G>C
1 paper
NM_001291867.2
p.R44K
c.131G>A
2 papers
NM_001291867.2
p.R44S
c.132G>C
1 paper
NM_001291867.2
p.R44S
c.132G>T
1 paper
NM_001291867.2
p.P41Q
c.122C>A
1 paper
NM_001291867.2
p.D45D
c.135C>T
1 paper
NM_001291867.2
p.L46delFs
c.136_137delCT
1 paper
NM_001291867.2
p.L46fs
c.136_137fs
1 paper
NM_001291867.2
p.P40L
c.119C>T
1 paper
NM_001291867.2
p.Q39K
c.115C>A
11 papers
NM_001291867.2
p.Q39*
c.115C>T
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