Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.E353_V354Splc

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.E353_V354Splc
c.1059+27A>G
Surrounding Variants
2 papers
NM_015166.4
p.E353_V354Splc
c.1059+16G>A
1 paper
NM_015166.4
p.E353_V354Splc
c.1059+1G>A
1 paper
NM_015166.4
p.A351delins
c.1053delinsCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGCT
4 papers
NM_015166.4
p.A351ins11
c.1052_1053ins33
1 paper
NM_015166.4
p.A351_G352ins11
c.1051_1055ins33
1 paper
NM_015166.4
p.Q347*
c.1039C>T
1 paper
NM_015166.4
p.G345Fs
c.1033delinsGCAFs
1 paper
NM_015166.4
p.D341_G345Fs
c.1023_1033delinsGCAFs
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.Q343*
c.1027C>T
1 paper
NM_015166.4
p.Q343E
c.1027C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."