Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.R127H

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.R127H
c.380G>A
Surrounding Variants
1 paper
NM_001038603.3
p.S128L
c.383C>T
1 paper
NM_001038603.3
p.P124T
c.370C>A
1 paper
NM_001038603.3
p.S132Y
c.395C>A
1 paper
NM_001038603.3
p.D135G
c.404A>G
1 paper
NM_001038603.3
p.G139R
c.415G>A
2 papers
NM_001038603.3
p.G139R
c.415G>C
1 paper
NM_001038603.3
p.G139V
c.416G>T
1 paper
NM_001038603.3
p.G142A
c.425G>C
2 papers
NM_001038603.3
p.R147W
c.439C>T
1 paper
NM_001038603.3
p.R147Q
c.440G>A
1 paper
NM_001038603.3
p.A150S
c.448G>T
1 paper
NM_001038603.3
p.D105_I109delFs
c.313_326del14
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