Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.V368G

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.V368G
c.1103T>G
Surrounding Variants
2 papers
NM_198270.4
p.G349Splc
c.1045+2T>A
1 paper
NM_001291867.2
p.S361T
c.1081T>A
1 paper
NM_001291867.2
p.S361ins1
c.1081_1082insAGA
1 paper
NM_001291867.2
p.V358_I359insFs
c.1074_1075insC
1 paper
NM_001291867.2
p.V358insFs
c.1073_1074insC
1 paper
NM_001291867.2
p.Q357P
c.1070A>C
1 paper
NM_001291867.2
p.D355G
c.1064A>G
1 paper
NM_001291867.2
p.E350K
c.1048G>A
1 paper
NM_001291867.2
p.E350Q
c.1048G>C
1 paper
NM_001291867.2
p.P346delFs
c.1038delG
1 paper
NM_001291867.2
p.P346fs
c.1036_1037fs
1 paper
NM_001291867.2
p.D334A
c.1001A>C
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