Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.R528H

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.R528H
c.1583G>A
Surrounding Variants
2 papers
NM_001038603.3
p.R528C
c.1582C>T
1 paper
NM_001038603.3
p.R528_N534delFs
c.1583_1601del19
1 paper
NM_001038603.3
p.E524A
c.1571A>C
1 paper
NM_001038603.3
p.E524*
c.1570G>T
1 paper
NM_001038603.3
p.K526delFs
c.1578delA
1 paper
NM_001038603.3
p.K535*
c.1603A>T
4 papers
NM_001038603.3
p.D519Fs
c.1555delinsAAFs
3 papers
NM_001038603.3
p.D519fs
c.1555_1556fs
1 paper
NM_001038603.3
p.I543F
c.1627A>T
1 paper
NM_001038603.3
p.D547V
c.1640A>T
2 papers
NM_001038603.3
p.D547E
c.1641T>A
1 paper
NM_001038603.3
p.D547E
c.1641T>G
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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."