Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.L62fs

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.L62fs
c.184_185fs
Surrounding Variants
2 papers
NM_015166.4
p.L62F
c.184C>T
1 paper
NM_015166.4
p.C61*
c.183C>A
1 paper
NM_015166.4
p.S60delFs
c.180delG
1 paper
NM_015166.4
p.L63R
c.188T>G
1 paper
NM_015166.4
p.S60fs
c.178_179fs
1 paper
NM_015166.4
p.G59_S60Splc
c.178-2A>G
1 paper
NM_015166.4
p.S66A
c.196T>G
6 papers
NM_015166.4
p.G59_S60Splc
c.178-10T>A
1 paper
NM_015166.4
p.G67E
c.200G>A
16 papers
NM_015166.4
p.S69L
c.206C>T
1 paper
NM_015166.4
p.S69W
c.206C>G
3 papers
NM_015166.4
p.Y71*
c.213C>G
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