Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.R22Q

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
13 papers
NM_015166.4
p.R22Q
c.65G>A
Surrounding Variants
1 paper
NM_015166.4
p.Q23*
c.67C>T
1 paper
NM_015166.4
p.G21R
c.61G>C
1 paper
NM_015166.4
p.D24delFs
c.72delG
1 paper
NM_015166.4
p.T17M
c.50C>T
1 paper
NM_015166.4
p.T17R
c.50C>G
1 paper
NM_015166.4
p.T17A
c.49A>G
1 paper
NM_015166.4
p.P16L
c.47C>T
1 paper
NM_015166.4
p.Y12delFs
c.35delT
8 papers
NM_015166.4
p.A32V
c.95C>T
1 paper
NM_015166.4
p.Y12S
c.35A>C
1 paper
NM_015166.4
p.L37fs
c.109_110fs
2 papers
NM_015166.4
p.L37insFs
c.110_111insGC
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