Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.G130R

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
3 papers
NM_015166.4
p.G130R
c.388G>C
Surrounding Variants
3 papers
NM_015166.4
p.G130R
c.388G>A
1 paper
NM_015166.4
p.F129delFs
c.387delA
1 paper
NM_015166.4
p.F129fs
c.385_386fs
6 papers
NM_015166.4
p.C131C
c.393C>T
1 paper
NM_015166.4
p.L133P
c.398T>C
1 paper
NM_015166.4
p.C125F
c.374G>T
10 papers
NM_015166.4
p.C125R
c.373T>C
9 papers
NM_015166.4
p.L135_N136insC
c.403_407ins3
1 paper
NM_015166.4
p.T123T
c.369T>C
1 paper
NM_015166.4
p.L135_N136del1
c.404_406delTCA
1 paper
NM_015166.4
p.T122T
c.366C>T
1 paper
NM_015166.4
p.V121L
c.361G>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."