Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.R372Q

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
4 papers
NM_001038603.3
p.R372Q
c.1115G>A
Surrounding Variants
2 papers
NM_001038603.3
p.R372W
c.1114C>T
3 papers
NM_001038603.3
p.A370V
c.1109C>T
1 paper
NM_001038603.3
p.R375insFs
c.1123dupA
1 paper
NM_001038603.3
p.Q380*
c.1138C>T
1 paper
NM_001038603.3
p.E382_I383Splc
c.1146+4A>G
2 papers
NM_001038603.3
p.V354fs
c.1060_1061fs
2 papers
NM_001038603.3
p.I353insFs
c.1058dupT
1 paper
NM_001038603.3
p.G340del1
c.1018_1019delGGA
4 papers
NM_001038603.3
p.R336W
c.1006C>T
1 paper
NM_001038603.3
p.C335C
c.1005C>T
1 paper
NM_001038603.3
p.F334V
c.1000T>G
1 paper
NM_001038603.3
p.E382_I383Splc
c.1146+105G>A
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