Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.I108delFs

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
3 papers
NM_015166.4
p.I108delFs
c.323delA
Surrounding Variants
2 papers
NM_015166.4
p.I108fs
c.322_323fs
1 paper
NM_015166.4
p.N110fs
c.328_329fs
1 paper
NM_015166.4
p.N110_F111insGC
c.328_332ins6
2 papers
NM_015166.4
p.V107_I108Splc
c.322-1G>A
2 papers
NM_015166.4
p.V107_I108Splc
c.322-2A>G
2 papers
NM_015166.4
p.V107_I108Splc
c.322-6T>C
2 papers
NM_015166.4
p.I113fs
c.337_338fs
3 papers
NM_015166.4
p.F115S
c.344T>C
1 paper
NM_015166.4
p.F115Y
c.344T>A
14 papers
NM_015166.4
p.T118M
c.353C>T
6 papers
NM_015166.4
p.T118R
c.353C>G
2 papers
NM_015166.4
p.I113_T118Fs
c.337_353delinsGFs
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