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.G618V

c.1853G>T

Surrounding Variants

1 paper

NM_001166108.2

p.R617C

c.1849C>T

1 paper

NM_001166108.2

p.P615L

c.1844C>T

2 papers

NM_001166108.2

p.A627T

c.1879G>A

1 paper

NM_001166108.2

p.N604_A605del1

c.1812_1814delTGC

1 paper

NM_001166108.2

p.N604_A605del2

c.1810_1814del6

1 paper

NM_001166108.2

p.A637A

c.1911T>C

1 paper

NM_001166108.2

p.A598T

c.1792G>A

2 papers

NM_001166108.2

p.R596K

c.1787G>A

1 paper

NM_001166108.2

p.S595R

c.1785C>A

1 paper

NM_001166108.2

p.S595R

c.1785C>G

1 paper

NM_001166108.2

p.S595R

c.1783A>C

1 paper

NM_001166108.2

p.T643_P646del4

c.1927_1937del12