Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL4

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
1–12 of 80 variants
32 papers
NM_001099287.2
p.A176D
c.527C>A
5 papers
NM_001099287.2
p.A114D
c.341C>A
4 papers
NM_001099287.2
p.R83*
c.247C>T
4 papers
NM_001099287.2
p.S142I
c.425G>T
3 papers
NM_001099287.2
p.L145F
c.433C>T
3 papers
NM_001099287.2
p.E178D
c.534G>C
3 papers
NM_001099287.2
p.E178D
c.534G>T
2 papers
NM_001099287.2
p.M1T
c.2T>C
2 papers
NM_001099287.2
p.G80V
c.239G>T
2 papers
NM_001099287.2
p.G121R
c.361G>A
2 papers
NM_001099287.2
p.S146F
c.437C>T
2 papers
NM_001099287.2
p.H175N
c.523C>A
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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."