Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.G73R

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.G73R
c.217G>C
Surrounding Variants
1 paper
NM_015166.4
p.G73R
c.217G>A
8 papers
NM_015166.4
p.G73E
c.218G>A
3 papers
NM_015166.4
p.Y71*
c.213C>G
3 papers
NM_015166.4
p.Y71*
c.213C>A
1 paper
NM_015166.4
p.F76L
c.226T>C
16 papers
NM_015166.4
p.S69L
c.206C>T
1 paper
NM_015166.4
p.F76L
c.228C>G
1 paper
NM_015166.4
p.S69W
c.206C>G
1 paper
NM_015166.4
p.F76L
c.228C>A
1 paper
NM_015166.4
p.G67E
c.200G>A
1 paper
NM_015166.4
p.E79*
c.235G>T
2 papers
NM_015166.4
p.E79K
c.235G>A
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