Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.G204R

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
3 papers
NM_001038603.3
p.G204R
c.610G>C
Surrounding Variants
1 paper
NM_001038603.3
p.L202P
c.605T>C
4 papers
NM_001038603.3
p.V198M
c.592G>A
1 paper
NM_001038603.3
p.V211L
c.631G>C
1 paper
NM_001038603.3
p.T212I
c.635C>T
1 paper
NM_001038603.3
p.D218G
c.653A>G
1 paper
NM_001038603.3
p.W221*
c.662G>A
1 paper
NM_001038603.3
p.W221*
c.663G>A
1 paper
NM_001038603.3
p.L224_G232delFs
c.670_694del25
1 paper
NM_001038603.3
p.E177G
c.530A>G
1 paper
NM_001038603.3
p.G232S
c.694G>A
1 paper
NM_001038603.3
p.S173I
c.518G>T
1 paper
NM_001038603.3
p.R170Q
c.509G>A
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