Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.T118R

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.T118R
c.353C>G
Surrounding Variants
14 papers
NM_015166.4
p.T118M
c.353C>T
2 papers
NM_015166.4
p.I113_T118Fs
c.337_353delinsGFs
3 papers
NM_015166.4
p.F119_A120insFs
c.357_358insT
2 papers
NM_015166.4
p.A120V
c.359C>T
1 paper
NM_015166.4
p.V121L
c.361G>T
3 papers
NM_015166.4
p.F115S
c.344T>C
1 paper
NM_015166.4
p.F115Y
c.344T>A
1 paper
NM_015166.4
p.T122T
c.366C>T
1 paper
NM_015166.4
p.T123T
c.369T>C
2 papers
NM_015166.4
p.I113fs
c.337_338fs
10 papers
NM_015166.4
p.C125R
c.373T>C
1 paper
NM_015166.4
p.C125F
c.374G>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."