Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.Y248C

MARVELD2

157 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Cort...

Pfam Domains

MARVELaa 187–361UCSCMembrane-associating domain
Occludin_ELLaa 446–548UCSCOccludin homology domain

Gene Aliases

HGNC Name

MARVEL domain containing 2

HGNC Previous Symbols

MRVLDC2; DFNB49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001038603.3
p.Y248C
c.743A>G
Surrounding Variants
1 paper
NM_001038603.3
p.Y246F
c.737A>T
1 paper
NM_001038603.3
p.P251insFs
c.752dupC
1 paper
NM_001038603.3
p.K252*
c.754A>T
4 papers
NM_001038603.3
p.G244R
c.730G>A
3 papers
NM_001038603.3
p.G244R
c.730G>C
1 paper
NM_001038603.3
p.Y243C
c.728A>G
2 papers
NM_001038603.3
p.L239*
c.716T>A
1 paper
NM_001038603.3
p.G240delFs
c.719delG
6 papers
NM_001038603.3
p.V258M
c.772G>A
5 papers
NM_001038603.3
p.G261E
c.782G>A
1 paper
NM_001038603.3
p.G232S
c.694G>A
1 paper
NM_001038603.3
p.I270del1
c.808_810delATT
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