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

1–12 of 225 variants

8 papers

NM_001166108.2

p.S136G

c.406A>G

5 papers

NM_001166108.2

p.M224T

c.671T>C

5 papers

NM_001166108.2

p.R465H

c.1394G>A

4 papers

NM_001166108.2

p.P28L

c.83C>T

4 papers

NM_001166108.2

p.M224I

c.672G>A

4 papers

NM_001166108.2

p.M224I

c.672G>C

4 papers

NM_001166108.2

p.M224I

c.672G>T

4 papers

NM_001166108.2

p.T347M

c.1040C>T

4 papers

NM_001166108.2

p.T425N

c.1274C>A

4 papers

NM_001166108.2

p.S573A

c.1717T>G

3 papers

NM_001166108.2

p.M224delins

c.671_672delinsCA

3 papers

NM_001166108.2

p.G228E

c.683G>A