Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.S407_E408delFs

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.S407_E408delFs
c.1221_1222delAG
Surrounding Variants
2 papers
NM_001038603.3
p.S407P
c.1219T>C
1 paper
NM_001038603.3
p.E408insFs
c.1223_1224insA
1 paper
NM_001038603.3
p.E408fs
c.1222_1223fs
1 paper
NM_001038603.3
p.R403fs
c.1207_1208fs
1 paper
NM_001038603.3
p.D402fs
c.1204_1205fs
1 paper
NM_001038603.3
p.E413*
c.1237G>T
2 papers
NM_001038603.3
p.R403_Q404delFs
c.1208_1211del4
1 paper
NM_001038603.3
p.G401delFs
c.1203delT
1 paper
NM_001038603.3
p.T416P
c.1246A>C
1 paper
NM_001038603.3
p.C395C
c.1185T>C
1 paper
NM_001038603.3
p.C395fs
c.1183_1184fs
1 paper
NM_001038603.3
p.K420E
c.1258A>G
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