Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.C85W

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
6 papers
NM_015166.4
p.C85W
c.255T>G
Surrounding Variants
1 paper
NM_015166.4
p.C85C
c.255T>C
3 papers
NM_015166.4
p.C85Y
c.254G>A
1 paper
NM_015166.4
p.R84insFs
c.250_251insC
4 papers
NM_015166.4
p.R84H
c.251G>A
4 papers
NM_015166.4
p.R84C
c.250C>T
2 papers
NM_015166.4
p.R84S
c.250C>A
8 papers
NM_015166.4
p.L83F
c.249G>T
7 papers
NM_015166.4
p.L83F
c.249G>C
1 paper
NM_015166.4
p.L83S
c.248T>C
7 papers
NM_015166.4
p.G88V
c.263G>T
2 papers
NM_015166.4
p.S89_C90Splc
c.267+1G>C
3 papers
NM_015166.4
p.M80I
c.240G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."