Varaico: Literature-Extracted Genetic Variants

PDLIM2

37 papers

RefSeq Summary

This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with...

Pfam Domains

PDZaa 3–81UCSCPDZ domain

DUF4749aa 195–258UCSCDomain of unknown function (DUF4749)

LIMaa 286–342UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 2

HGNC Alias Name

mystique

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001368120.1

p.R254K

c.761G>A

Surrounding Variants

1 paper

NM_001368120.1

p.A251T

c.751G>A

1 paper

NM_001368120.1

p.E221*

c.661G>T

1 paper

NM_001368120.1

p.D219E

c.657C>A

1 paper

NM_001368120.1

p.E218K

c.652G>A

1 paper

NM_001368120.1

p.S209L

c.626C>T

1 paper

NM_001368120.1

p.M207T

c.620T>C

1 paper

NM_001368120.1

p.S206Splc

c.617+46G>T

1 paper

NM_001368120.1

p.P280T

c.838C>A

1 paper

NM_001368120.1

p.A294V

c.881C>T

2 papers

NM_001368120.1

p.A352V

c.1055C>T

1 paper

NM_001368120.1

p.R179Q

c.536G>A

1 paper

NM_001368120.1

p.R153C

c.457C>T