Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.P294S

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.P294S
c.880C>T
Surrounding Variants
6 papers
NM_015166.4
p.P294L
c.881C>T
1 paper
NM_015166.4
p.Y293fs
c.877_878fs
1 paper
NM_015166.4
p.K298E
c.892A>G
1 paper
NM_015166.4
p.E288D
c.864G>C
2 papers
NM_015166.4
p.K298_P299Splc
c.894+5G>C
1 paper
NM_015166.4
p.K298_P299Splc
c.894+5G>A
1 paper
NM_015166.4
p.V287M
c.859G>A
2 papers
NM_015166.4
p.I286M
c.858C>G
1 paper
NM_015166.4
p.M284R
c.851T>G
2 papers
NM_015166.4
p.I283delFs
c.849delG
1 paper
NM_015166.4
p.S280_F281delins
c.838_843delinsATTTTA
1 paper
NM_015166.4
p.S280S
c.840A>G
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