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.E107D

c.321G>T

Surrounding Variants

1 paper

NM_001166108.2

p.E107D

c.321G>C

1 paper

NM_001166108.2

p.Q109R

c.326A>G

1 paper

NM_001166108.2

p.L105L

c.313C>T

1 paper

NM_001166108.2

p.L105fs

c.313_314fs

1 paper

NM_001166108.2

p.S99*

c.296C>A

1 paper

NM_001166108.2

p.S99*

c.296C>G

1 paper

NM_001166108.2

p.R98_P104insFs

c.292_311dup20

1 paper

NM_001166108.2

p.N97H

c.289A>C

1 paper

NM_001166108.2

p.K119delFs

c.356delA

1 paper

NM_001166108.2

p.K121N

c.363A>C

1 paper

NM_001166108.2

p.K121N

c.363A>T

2 papers

NM_001166108.2

p.P122L

c.365C>T