Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.R500Q

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.R500Q
c.1499G>A
Surrounding Variants
4 papers
NM_001038603.3
p.Q501del1
c.1501_1502delCAG
1 paper
NM_001038603.3
p.R500G
c.1498C>G
21 papers
NM_001038603.3
p.R500*
c.1498C>T
1 paper
NM_001038603.3
p.S497L
c.1490C>T
1 paper
NM_001038603.3
p.Q501_E502Splc
c.1503+9G>A
1 paper
NM_001038603.3
p.L493W
c.1478T>G
1 paper
NM_001038603.3
p.R492T
c.1475G>C
2 papers
NM_001038603.3
p.M490I
c.1470G>A
2 papers
NM_001038603.3
p.M490I
c.1470G>C
2 papers
NM_001038603.3
p.M490I
c.1470G>T
1 paper
NM_001038603.3
p.V489delFs
c.1467delG
1 paper
NM_001038603.3
p.V489M
c.1465G>A
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