Varaico: Literature-Extracted Genetic Variants

PALLD

180 papers

RefSeq Summary

This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cel...

Pfam Domains

I-setaa 87–178UCSCImmunoglobulin I-set domain

I-setaa 221–311UCSCImmunoglobulin I-set domain

I-setaa 271–361UCSCImmunoglobulin I-set domain

I-setaa 320–411UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

palladin, cytoskeletal associated protein

HGNC Alias Symbols

KIAA0992; SIH002; CGI-151

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001166108.2

p.N297delins

c.889_890delinsGT

Surrounding Variants

1 paper

NM_001166108.2

p.C292Y

c.875G>A

1 paper

NM_001166108.2

p.V302A

c.905T>C

2 papers

NM_001166108.2

p.R303delins

c.907_908delinsCT

3 papers

NM_001166108.2

p.R303S

c.909A>C

3 papers

NM_001166108.2

p.R303S

c.909A>T

1 paper

NM_001166108.2

p.R303Splc

c.908+1G>A

1 paper

NM_001166108.2

p.R303Splc

c.908+1G>C

1 paper

NM_001166108.2

p.R287*

c.859C>T

1 paper

NM_001166108.2

p.S286G

c.856A>G

1 paper

NM_001166108.2

p.Q275*

c.823C>T

1 paper

NM_001166108.2

p.R272*

c.814C>T

2 papers

NM_001166108.2

p.P271H

c.812C>A