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

1 paper

NM_001166108.2

p.L168Q

c.503T>A

Surrounding Variants

1 paper

NM_001166108.2

p.D170G

c.509A>G

1 paper

NM_001166108.2

p.T180I

c.539C>T

1 paper

NM_001166108.2

p.V152A

c.455T>C

2 papers

NM_001166108.2

p.V152I

c.454G>A

2 papers

NM_001166108.2

p.R189_N190delins

c.567_568delinsCT

1 paper

NM_001166108.2

p.N194_S202delFs

c.580_604del25

1 paper

NM_001166108.2

p.R143C

c.427C>T

1 paper

NM_001166108.2

p.N194fs

c.580_581fs

1 paper

NM_001166108.2

p.G195A

c.584G>C

1 paper

NM_001166108.2

p.K139R

c.416A>G

1 paper

NM_001166108.2

p.R138*

c.412C>T

1 paper

NM_001166108.2

p.L137V

c.409C>G