Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.S280L

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
24 papers
NM_015166.4
p.S280L
c.839C>T
Surrounding Variants
1 paper
NM_015166.4
p.S280*
c.839C>G
2 papers
NM_015166.4
p.G277_S280insFs
c.831_838dup8
1 paper
NM_015166.4
p.S280*
c.839C>A
1 paper
NM_015166.4
p.S280P
c.838T>C
1 paper
NM_015166.4
p.S280S
c.840A>G
2 papers
NM_015166.4
p.S280fs
c.838_839fs
1 paper
NM_015166.4
p.L279P
c.836T>C
1 paper
NM_015166.4
p.S280_F281delins
c.838_843delinsATTTTA
2 papers
NM_015166.4
p.Y278C
c.833A>G
5 papers
NM_015166.4
p.Y278H
c.832T>C
2 papers
NM_015166.4
p.I283delFs
c.849delG
1 paper
NM_015166.4
p.M284R
c.851T>G
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