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.S13delFs

c.39delC

Surrounding Variants

1 paper

NM_001166108.2

p.S9Y

c.26C>A

1 paper

NM_001166108.2

p.S6S

c.18C>T

1 paper

NM_001166108.2

p.G3V

c.8G>T

1 paper

NM_001166108.2

p.T24A

c.70A>G

1 paper

NM_001166108.2

p.M1I

c.3G>A

1 paper

NM_001166108.2

p.M1I

c.3G>C

1 paper

NM_001166108.2

p.M1_S2insFs

c.3_4insA

1 paper

NM_001166108.2

p.M1I

c.3G>T

4 papers

NM_001166108.2

p.P28L

c.83C>T

1 paper

NM_001166108.2

p.G29delFs

c.85delG

1 paper

NM_001166108.2

p.S35G

c.103A>G

1 paper

NM_001166108.2

p.L43V

c.127C>G