Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.I270L

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
1 paper
NM_001038603.3
p.I270L
c.808A>C
Surrounding Variants
1 paper
NM_001038603.3
p.I270del1
c.808_810delATT
1 paper
NM_001038603.3
p.Y278S
c.833A>C
5 papers
NM_001038603.3
p.G261E
c.782G>A
1 paper
NM_001038603.3
p.R280W
c.838C>T
1 paper
NM_001038603.3
p.R280Q
c.839G>A
6 papers
NM_001038603.3
p.V258M
c.772G>A
1 paper
NM_001038603.3
p.D285A
c.854A>C
2 papers
NM_001038603.3
p.S286insFs
c.858dupT
1 paper
NM_001038603.3
p.K252*
c.754A>T
1 paper
NM_001038603.3
p.W288L
c.863G>T
1 paper
NM_001038603.3
p.P251insFs
c.752dupC
1 paper
NM_001038603.3
p.P290L
c.869C>T
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