Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.Q336insFs

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.Q336insFs
c.1006_1007insTA
Surrounding Variants
1 paper
NM_015166.4
p.Q336insFs
c.1006_1007dupCA
1 paper
NM_015166.4
p.F329del1
c.985_986delGAA
1 paper
NM_015166.4
p.Q343*
c.1027C>T
1 paper
NM_015166.4
p.Q343E
c.1027C>G
1 paper
NM_015166.4
p.R328H
c.983G>A
7 papers
NM_015166.4
p.N344S
c.1031A>G
2 papers
NM_015166.4
p.T342_N344del0
c.1025_1030del6
1 paper
NM_015166.4
p.V327L
c.979G>T
1 paper
NM_015166.4
p.V327L
c.979G>C
1 paper
NM_015166.4
p.D341_G345Fs
c.1023_1033delinsGCAFs
1 paper
NM_015166.4
p.G345Fs
c.1033delinsGCAFs
13 papers
NM_015166.4
p.C326R
c.976T>C
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