Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.S246delFs

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
4 papers
NM_015166.4
p.S246delFs
c.736delT
Surrounding Variants
15 papers
NM_015166.4
p.S246R
c.738T>G
15 papers
NM_015166.4
p.S246R
c.738T>A
3 papers
NM_015166.4
p.S246fs
c.736_737fs
15 papers
NM_015166.4
p.S246R
c.736A>C
1 paper
NM_015166.4
p.A245Fs
c.734_735delinsGFs
6 papers
NM_015166.4
p.A245P
c.733G>C
1 paper
NM_015166.4
p.A245fs
c.733_734fs
1 paper
NM_015166.4
p.V248L
c.742G>T
1 paper
NM_015166.4
p.A243T
c.727G>A
1 paper
NM_015166.4
p.S242T
c.725G>C
1 paper
NM_015166.4
p.C252fs
c.754_755fs
1 paper
NM_015166.4
p.C252insFs
c.754dupT
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