Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.R29I

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.R29I
c.86G>T
Surrounding Variants
1 paper
NM_001038603.3
p.P32S
c.94C>T
7 papers
NM_001038603.3
p.T33I
c.98C>T
1 paper
NM_001038603.3
p.D25H
c.73G>C
2 papers
NM_001038603.3
p.L34F
c.100C>T
2 papers
NM_001038603.3
p.L34P
c.101T>C
1 paper
NM_001038603.3
p.S19N
c.56G>A
1 paper
NM_001038603.3
p.A40E
c.119C>A
1 paper
NM_001038603.3
p.V41M
c.121G>A
2 papers
NM_001038603.3
p.A43T
c.127G>A
2 papers
NM_001038603.3
p.D44N
c.130G>A
2 papers
NM_001038603.3
p.R13C
c.37C>T
7 papers
NM_001038603.3
p.R12delFs
c.35delG
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