Varaico: Literature-Extracted Genetic Variants

Gene:MLC1

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
1–12 of 342 variants
30 papers
NM_015166.4
p.S93L
c.278C>T
24 papers
NM_015166.4
p.P92S
c.274C>T
24 papers
NM_015166.4
p.S280L
c.839C>T
18 papers
NM_015166.4
p.P45insFs
c.135dupC
17 papers
NM_015166.4
p.L309M
c.925C>A
16 papers
NM_015166.4
p.S69L
c.206C>T
15 papers
NM_015166.4
p.G59E
c.176G>A
15 papers
NM_015166.4
p.S246R
c.736A>C
15 papers
NM_015166.4
p.S246R
c.738T>G
15 papers
NM_015166.4
p.S246R
c.738T>A
14 papers
NM_015166.4
p.T118M
c.353C>T
13 papers
NM_015166.4
p.R22Q
c.65G>A
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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."