Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.Q38*

MLC1

245 papers

RefSeq Summary

The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalenceph...

Pfam Domains

Membrane_MLC1aa 1–377UCSCMembrane protein MLC1

Gene Aliases

HGNC Name

modulator of VRAC current 1

HGNC Alias Symbols

KIAA0027; LVM; VL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015166.4
p.Q38*
c.112C>T
Surrounding Variants
1 paper
NM_015166.4
p.Q38fs
c.112_113fs
2 papers
NM_015166.4
p.L37fs
c.109_110fs
2 papers
NM_015166.4
p.L37_Q38insFs
c.111_112insGC
2 papers
NM_015166.4
p.L37insFs
c.110_111insGC
4 papers
NM_015166.4
p.L37delFs
c.109delG
1 paper
NM_015166.4
p.L37fs
c.109_110fs
8 papers
NM_015166.4
p.A32V
c.95C>T
1 paper
NM_015166.4
p.P45H
c.134C>A
1 paper
NM_015166.4
p.P45fs
c.133_134fs
18 papers
NM_015166.4
p.P45insFs
c.135dupC
5 papers
NM_015166.4
p.P45delFs
c.135delG
5 papers
NM_015166.4
p.C46fs
c.136_137fs
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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."