Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.C252fs

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.C252fs
c.754_755fs
Surrounding Variants
1 paper
NM_015166.4
p.C252insFs
c.754dupT
2 papers
NM_015166.4
p.S254S
c.762C>T
1 paper
NM_015166.4
p.V248L
c.742G>T
1 paper
NM_015166.4
p.L257M
c.769C>A
15 papers
NM_015166.4
p.S246R
c.738T>G
15 papers
NM_015166.4
p.S246R
c.738T>A
4 papers
NM_015166.4
p.S246delFs
c.736delT
3 papers
NM_015166.4
p.S246fs
c.736_737fs
15 papers
NM_015166.4
p.S246R
c.736A>C
2 papers
NM_015166.4
p.L257_V258Splc
c.771+2T>C
1 paper
NM_015166.4
p.A245Fs
c.734_735delinsGFs
6 papers
NM_015166.4
p.A245P
c.733G>C
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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."