Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM5
Variant:p.Q96H

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.Q96H
c.288A>C
Surrounding Variants
1 paper
NM_006457.5
p.Q96H
c.288A>T
2 papers
NM_006457.5
p.P92L
c.275C>T
1 paper
NM_006457.5
p.R83Splc
c.249-6C>T
1 paper
NM_006457.5
p.K97_G98Splc
c.292-212C>T
1 paper
NM_006457.5
p.I109I
c.327T>A
1 paper
NM_006457.5
p.P112T
c.334C>A
1 paper
NM_006457.5
p.Y125F
c.374A>T
1 paper
NM_006457.5
p.N126insFs
c.378dupT
1 paper
NM_006457.5
p.A128A
c.384A>T
1 paper
NM_006457.5
p.R130W
c.388C>T
8 papers
NM_006457.5
p.S136F
c.407C>T
NM_001011513.4
p.K97_P98Splc
c.292-212C>T
1 paper
NM_006457.5
p.S142C
c.425C>G
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