Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.K298_P299Splc

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
2 papers
NM_015166.4
p.K298_P299Splc
c.895-1G>A
Surrounding Variants
1 paper
NM_015166.4
p.K298_P299Splc
c.895-1G>T
3 papers
NM_015166.4
p.K298_P299Splc
c.895-1G>C
2 papers
NM_015166.4
p.K298_P299Splc
c.895-2A>G
1 paper
NM_015166.4
p.D302V
c.905A>T
4 papers
NM_015166.4
p.V303fs
c.907_908fs
2 papers
NM_015166.4
p.V303fs
c.907_908fs
1 paper
NM_015166.4
p.L305M
c.913C>A
1 paper
NM_015166.4
p.L305L
c.915G>A
4 papers
NM_015166.4
p.V303_L306Fs
c.908_918delinsGCAFs
3 papers
NM_015166.4
p.L306Fs
c.918delinsGCAFs
1 paper
NM_015166.4
p.L308Q
c.923T>A
1 paper
NM_015166.4
p.L309_L310insLL
c.925_929ins6
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