Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL4
Variant:p.S142N

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.S142N
c.425G>A
Surrounding Variants
4 papers
NM_001099287.2
p.S142I
c.425G>T
1 paper
NM_001099287.2
p.I141V
c.421A>G
1 paper
NM_001099287.2
p.I141delFs
c.421delA
1 paper
NM_001099287.2
p.G135R
c.403G>A
1 paper
NM_001099287.2
p.P133H
c.398C>A
1 paper
NM_001099287.2
p.T132M
c.395C>T
1 paper
NM_001099287.2
p.P127S
c.379C>T
2 papers
NM_001099287.2
p.G121R
c.361G>A
5 papers
NM_001099287.2
p.A114D
c.341C>A
1 paper
NM_001099287.2
p.G108fs
c.322_323fs
1 paper
NM_001099287.2
p.G95delFs
c.283delG
3 papers
NM_001099287.2
p.L145F
c.433C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."