Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.F57_D65delFs

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.F57_D65delFs
c.171_193del23
Surrounding Variants
2 papers
NM_001038603.3
p.P56S
c.166C>T
1 paper
NM_001038603.3
p.P59L
c.176C>T
1 paper
NM_001038603.3
p.S63L
c.188C>T
1 paper
NM_001038603.3
p.L51F
c.151C>T
1 paper
NM_001038603.3
p.E68K
c.202G>A
2 papers
NM_001038603.3
p.D44N
c.130G>A
1 paper
NM_001038603.3
p.I71V
c.211A>G
2 papers
NM_001038603.3
p.A43T
c.127G>A
1 paper
NM_001038603.3
p.V41M
c.121G>A
1 paper
NM_001038603.3
p.A40E
c.119C>A
1 paper
NM_001038603.3
p.P77L
c.230C>T
1 paper
NM_001038603.3
p.R80C
c.238C>T
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