Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.N141K

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
9 papers
NM_015166.4
p.N141K
c.423C>G
Surrounding Variants
1 paper
NM_015166.4
p.N141N
c.423C>T
9 papers
NM_015166.4
p.N141K
c.423C>A
1 paper
NM_015166.4
p.N141_I142Splc
c.423+1G>T
8 papers
NM_015166.4
p.N141_I142Splc
c.423+1G>A
6 papers
NM_015166.4
p.N141S
c.422A>G
3 papers
NM_015166.4
p.N141_I142Splc
c.423+6T>G
3 papers
NM_015166.4
p.N141_I142Splc
c.423+6T>C
1 paper
NM_015166.4
p.L135_N136del1
c.404_406delTCA
9 papers
NM_015166.4
p.L135_N136insC
c.403_407ins3
1 paper
NM_015166.4
p.L133P
c.398T>C
6 papers
NM_015166.4
p.C131C
c.393C>T
3 papers
NM_015166.4
p.G130R
c.388G>C
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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."