Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.R317Q

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.R317Q
c.950G>A
Surrounding Variants
5 papers
NM_001038603.3
p.R317G
c.949C>G
1 paper
NM_001038603.3
p.N313_F326del14
c.937_977del42
1 paper
NM_001038603.3
p.P324Q
c.971C>A
1 paper
NM_001038603.3
p.Y304S
c.911A>C
1 paper
NM_001038603.3
p.F334V
c.1000T>G
2 papers
NM_001038603.3
p.L300M
c.898T>A
1 paper
NM_001038603.3
p.C335C
c.1005C>T
4 papers
NM_001038603.3
p.R336W
c.1006C>T
1 paper
NM_001038603.3
p.G340del1
c.1018_1019delGGA
2 papers
NM_001038603.3
p.F294fs
c.880_881fs
2 papers
NM_001038603.3
p.F294_N297delFs
c.880_890del11
1 paper
NM_001038603.3
p.P290L
c.869C>T
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