Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL4
Variant:p.I70M

NIPAL4

76 papers

RefSeq Summary

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010].

Pfam Domains

Mg_trans_NIPAaa 54–348UCSCMagnesium transporter NIPA

Gene Aliases

HGNC Name

NIPA like domain containing 4

HGNC Alias Symbols

ICHYN; SLC57A6; NIPA4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099287.2
p.I70M
c.210C>G
Surrounding Variants
1 paper
NM_001099287.2
p.S67C
c.199A>T
2 papers
NM_001099287.2
p.G80V
c.239G>T
4 papers
NM_001099287.2
p.R83*
c.247C>T
1 paper
NM_001099287.2
p.R49K
c.146G>A
1 paper
NM_001099287.2
p.A92T
c.274G>A
1 paper
NM_001099287.2
p.R49*
c.145A>T
1 paper
NM_001099287.2
p.W46*
c.138G>A
1 paper
NM_001099287.2
p.W46*
c.137G>A
1 paper
NM_001099287.2
p.V37A
c.110T>C
1 paper
NM_001099287.2
p.E36G
c.107A>G
1 paper
NM_001099287.2
p.D32G
c.95A>G
1 paper
NM_001099287.2
p.N31I
c.92A>T
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