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.Q585H

c.1755G>T

Surrounding Variants

1 paper

NM_001166108.2

p.V587L

c.1759G>C

1 paper

NM_001166108.2

p.V587L

c.1759G>T

1 paper

NM_001166108.2

p.S595R

c.1783A>C

1 paper

NM_001166108.2

p.S595R

c.1785C>A

1 paper

NM_001166108.2

p.S595R

c.1785C>G

2 papers

NM_001166108.2

p.R596K

c.1787G>A

1 paper

NM_001166108.2

p.E575Q

c.1723G>C

1 paper

NM_001166108.2

p.A598T

c.1792G>A

4 papers

NM_001166108.2

p.S573A

c.1717T>G

2 papers

NM_001166108.2

p.S572C

c.1714A>T

2 papers

NM_001166108.2

p.T571_S572delins

c.1713_1714delinsCT

1 paper

NM_001166108.2

p.N604_A605del2

c.1810_1814del6