Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.K515delFs

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
11 papers
NM_001038603.3
p.K515delFs
c.1543delA
Surrounding Variants
1 paper
NM_001038603.3
p.K515fs
c.1543_1544fs
4 papers
NM_001038603.3
p.K517fs
c.1549_1550fs
1 paper
NM_001038603.3
p.H510Y
c.1528C>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.E524*
c.1570G>T
1 paper
NM_001038603.3
p.K526delFs
c.1578delA
1 paper
NM_001038603.3
p.E524A
c.1571A>C
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.R528H
c.1583G>A
1 paper
NM_001038603.3
p.K535*
c.1603A>T
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