Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.V96M

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.V96M
c.286G>A
Surrounding Variants
1 paper
NM_015166.4
p.S97N
c.290G>A
30 papers
NM_015166.4
p.S93L
c.278C>T
1 paper
NM_015166.4
p.S93W
c.278C>G
1 paper
NM_015166.4
p.P92L
c.275C>T
1 paper
NM_015166.4
p.P92H
c.275C>A
24 papers
NM_015166.4
p.P92S
c.274C>T
1 paper
NM_015166.4
p.V100fs
c.298_299fs
1 paper
NM_015166.4
p.S101A
c.301T>G
1 paper
NM_015166.4
p.I91L
c.271A>C
2 papers
NM_015166.4
p.C90G
c.268T>G
1 paper
NM_015166.4
p.C90fs
c.268_269fs
1 paper
NM_015166.4
p.S89_C90Splc
c.268-1G>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."