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.D486G

c.1457A>G

Surrounding Variants

1 paper

NM_001166108.2

p.R488Q

c.1463G>A

1 paper

NM_001166108.2

p.Q491R

c.1472A>G

1 paper

NM_001166108.2

p.Q471R

c.1412A>G

1 paper

NM_001166108.2

p.A467_L470delFs

c.1401_1410del10

1 paper

NM_001166108.2

p.A467fs

c.1399_1400fs

5 papers

NM_001166108.2

p.R465H

c.1394G>A

2 papers

NM_001166108.2

p.G433R

c.1297G>A

2 papers

NM_001166108.2

p.G433R

c.1297G>C

2 papers

NM_001166108.2

p.R430*

c.1288C>T

4 papers

NM_001166108.2

p.T425N

c.1274C>A

2 papers

NM_001166108.2

p.T425S

c.1274C>G

2 papers

NM_001166108.2

p.T425S

c.1273A>T