Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2

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
1–12 of 190 variants
21 papers
NM_001038603.3
p.A444Splc
c.1331+2T>C
21 papers
NM_001038603.3
p.R500*
c.1498C>T
11 papers
NM_001038603.3
p.K515delFs
c.1543delA
10 papers
NM_001038603.3
p.M394_C395Splc
c.1183-1G>A
9 papers
NM_001038603.3
p.A444Splc
c.1331+1G>A
7 papers
NM_001038603.3
p.R12delFs
c.35delG
7 papers
NM_001038603.3
p.T33I
c.98C>T
6 papers
NM_001038603.3
p.V258M
c.772G>A
5 papers
NM_001038603.3
p.G261E
c.782G>A
5 papers
NM_001038603.3
p.R317G
c.949C>G
4 papers
NM_001038603.3
p.V198M
c.592G>A
4 papers
NM_001038603.3
p.G244R
c.730G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."