Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.L309M

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
17 papers
NM_015166.4
p.L309M
c.925C>A
Surrounding Variants
1 paper
NM_015166.4
p.L309_L310insLL
c.925_929ins6
1 paper
NM_015166.4
p.L308Q
c.923T>A
3 papers
NM_015166.4
p.L310ins1
c.929_930insGCT
2 papers
NM_015166.4
p.L310ins2
c.929_930ins6
3 papers
NM_015166.4
p.L306Fs
c.918delinsGCAFs
2 papers
NM_015166.4
p.L309_L310ins0
c.927_929dupGCT
1 paper
NM_015166.4
p.L308_L310ins1
c.924_929dup6
1 paper
NM_015166.4
p.L305del1
c.913_914delCAG
2 papers
NM_015166.4
p.L308_L310del0
c.924_929del6
2 papers
NM_015166.4
p.L307_L310del0
c.921_929del9
1 paper
NM_015166.4
p.L310insFs
c.929_930dupTA
1 paper
NM_015166.4
p.L310del1
c.928_929delTAG
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