Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.L318L

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.L318L
c.954C>T
Surrounding Variants
1 paper
NM_015166.4
p.L318H
c.953T>A
1 paper
NM_015166.4
p.G317S
c.949G>A
1 paper
NM_015166.4
p.T320M
c.959C>T
7 papers
NM_015166.4
p.T320K
c.959C>A
1 paper
NM_015166.4
p.G321fs
c.961_962fs
1 paper
NM_015166.4
p.G321G
c.963C>A
2 papers
NM_015166.4
p.G321delFs
c.962delC
1 paper
NM_015166.4
p.Q315P
c.944A>C
1 paper
NM_015166.4
p.L307_L314del8
c.919_941del24
1 paper
NM_015166.4
p.A323S
c.967G>T
3 papers
NM_015166.4
p.I324S
c.971T>G
6 papers
NM_015166.4
p.L304_L312del0
c.912_935del24
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