Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.N104S

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.N104S
c.311A>G
Surrounding Variants
1 paper
NM_015166.4
p.R103_A105delFs
c.307_314del8
3 papers
NM_015166.4
p.V107insFs
c.320_321insC
1 paper
NM_015166.4
p.S101A
c.301T>G
1 paper
NM_015166.4
p.V107_I108Splc
c.321+2T>G
1 paper
NM_015166.4
p.V100fs
c.298_299fs
1 paper
NM_015166.4
p.V107del1
c.319_320delCAC
1 paper
NM_015166.4
p.V107_I108Splc
c.321+6T>G
1 paper
NM_015166.4
p.S97N
c.290G>A
1 paper
NM_015166.4
p.V96M
c.286G>A
30 papers
NM_015166.4
p.S93L
c.278C>T
1 paper
NM_015166.4
p.S93W
c.278C>G
1 paper
NM_015166.4
p.P92L
c.275C>T
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