Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.E422Q

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.E422Q
c.1264G>C
Surrounding Variants
1 paper
NM_001038603.3
p.K420E
c.1258A>G
1 paper
NM_001038603.3
p.L424P
c.1271T>C
1 paper
NM_001038603.3
p.S425N
c.1274G>A
1 paper
NM_001038603.3
p.T416P
c.1246A>C
1 paper
NM_001038603.3
p.E413*
c.1237G>T
1 paper
NM_001038603.3
p.H432delFs
c.1295delA
1 paper
NM_001038603.3
p.K435T
c.1304A>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.S407_E408delFs
c.1221_1222delAG
2 papers
NM_001038603.3
p.S407P
c.1219T>C
1 paper
NM_001038603.3
p.R403fs
c.1207_1208fs
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