Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL4
Variant:p.L145F

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
3 papers
NM_001099287.2
p.L145F
c.433C>T
Surrounding Variants
2 papers
NM_001099287.2
p.S146F
c.437C>T
1 paper
NM_001099287.2
p.S153N
c.458G>A
1 paper
NM_001099287.2
p.L156L
c.466C>T
1 paper
NM_001099287.2
p.M172insFs
c.514_515dupAT
1 paper
NM_001099287.2
p.M172fs
c.514_515fs
1 paper
NM_001099287.2
p.V173G
c.518T>G
2 papers
NM_001099287.2
p.H175N
c.523C>A
1 paper
NM_001099287.2
p.H175D
c.523C>G
1 paper
NM_001099287.2
p.H175Y
c.523C>T
33 papers
NM_001099287.2
p.A176D
c.527C>A
NM_001172292.2
p.A157D
c.470C>A
3 papers
NM_001099287.2
p.E178D
c.534G>C
3 papers
NM_001099287.2
p.E178D
c.534G>T
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