Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.E177G

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.E177G
c.530A>G
Surrounding Variants
1 paper
NM_001038603.3
p.S173I
c.518G>T
1 paper
NM_001038603.3
p.R170Q
c.509G>A
2 papers
NM_001038603.3
p.R170*
c.508C>T
3 papers
NM_001038603.3
p.Q167R
c.500A>G
1 paper
NM_001038603.3
p.T166I
c.497C>T
1 paper
NM_001038603.3
p.H165R
c.494A>G
1 paper
NM_001038603.3
p.R164*
c.490C>T
1 paper
NM_001038603.3
p.Y159C
c.476A>G
4 papers
NM_001038603.3
p.V198M
c.592G>A
1 paper
NM_001038603.3
p.R156Q
c.467G>A
1 paper
NM_001038603.3
p.R156W
c.466C>T
1 paper
NM_001038603.3
p.V153V
c.459G>A
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