Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM5
Variant:p.V568M

PDLIM5

120 papers

RefSeq Summary

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold...

Pfam Domains

PDZaa 4–82UCSCPDZ domain
PDZaa 4–82UCSCPDZ domain
LIMaa 95–150UCSCLIM domain
LIMaa 154–209UCSCLIM domain
LIMaa 213–270UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 5

HGNC Alias Symbol

Enh

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006457.5
p.V568M
c.1702G>A
Surrounding Variants
2 papers
NM_006457.5
p.Q576L
c.1727A>T
3 papers
NM_006457.5
p.K588*
c.1762A>T
7 papers
NM_006457.5
p.K588K
c.1764G>A
1 paper
NM_006457.5
p.H592R
c.1775A>G
1 paper
NM_006457.5
p.H560Y
c.1678C>T
5 papers
NM_006457.5
p.F551F
c.1653C>T
1 paper
NM_006457.5
p.I545I
c.1635A>T
1 paper
NM_006457.5
p.C538F
c.1613G>T
1 paper
NM_006457.5
p.V504V
c.1512G>A
1 paper
NM_006457.5
p.A493A
c.1479G>A
1 paper
NM_006457.5
p.I456T
c.1367T>C
1 paper
NM_006457.5
p.G436Fs
c.1307delinsAAFs
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