Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.R408K

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.R408K
c.1223G>A
Surrounding Variants
1 paper
NM_001291867.2
p.Q410*
c.1228C>T
1 paper
NM_001291867.2
p.S403L
c.1208C>T
1 paper
NM_001291867.2
p.K400T
c.1199A>C
7 papers
NM_198270.4
p.R373*
c.1117C>T
NM_001291867.2
p.R394*
c.1180C>T
1 paper
NM_001291867.2
p.R393K
c.1178G>A
1 paper
NM_001291867.2
p.L390L
c.1168C>T
1 paper
NM_001291867.2
p.H385Q
c.1155T>A
1 paper
NM_001291867.2
p.H385Q
c.1155T>G
1 paper
NM_001291868.2
p.V186F
c.556G>T
1 paper
NM_001291867.2
p.L383L
c.1149G>T
1 paper
NM_001291867.2
p.G372D
c.1115G>A
1 paper
NM_001291867.2
p.S415A
c.1243T>G
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