Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.T268R

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
2 papers
NM_015166.4
p.T268R
c.803C>G
Surrounding Variants
3 papers
NM_015166.4
p.S269Y
c.806C>A
2 papers
NM_015166.4
p.P270R
c.809C>G
2 papers
NM_015166.4
p.L271P
c.812T>C
1 paper
NM_015166.4
p.S265delFs
c.793delT
1 paper
NM_015166.4
p.S265fs
c.793_794fs
1 paper
NM_015166.4
p.F273L
c.817T>C
2 papers
NM_015166.4
p.F273L
c.819C>G
1 paper
NM_015166.4
p.F273L
c.819C>A
1 paper
NM_015166.4
p.T274I
c.821C>T
6 papers
NM_015166.4
p.A275T
c.823G>A
8 papers
NM_015166.4
p.A275D
c.824C>A
5 papers
NM_015166.4
p.Y278H
c.832T>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."