Varaico: Literature-Extracted Genetic Variants

PDLIM3

374 papers

RefSeq Summary

The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the...

Pfam Domains

PDZaa 3–81UCSCPDZ domain

DUF4749aa 114–183UCSCDomain of unknown function (DUF4749)

DUF4749aa 184–271UCSCDomain of unknown function (DUF4749)

LIMaa 206–260UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 3

HGNC Alias Symbol

ALP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014476.6

p.P2insFs

c.4dupC

Surrounding Variants

1 paper

NM_014476.6

p.Q3Fs

c.7delinsTGGTCFs

1 paper

NM_014476.6

p.P2P

c.6C>T

4 papers

NM_014476.6

p.P2T

c.4C>A

1 paper

NM_014476.6

p.M1I

c.3G>T

1 paper

NM_014476.6

p.M1I

c.3G>C

1 paper

NM_014476.6

p.M1I

c.3G>A

1 paper

NM_014476.6

p.M1V

c.1A>G

2 papers

NM_014476.6

p.P10S

c.28C>T

2 papers

NM_014476.6

p.P10L

c.29C>T

1 paper

NM_014476.6

p.A11T

c.31G>A

1 paper

NM_014476.6

p.G14R

c.40G>C

1 paper

NM_014476.6

p.G14S

c.40G>A