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

2 papers

NM_001166108.2

p.E56A

c.167A>C

Surrounding Variants

1 paper

NM_001166108.2

p.D57H

c.169G>C

2 papers

NM_001166108.2

p.E54K

c.160G>A

2 papers

NM_001166108.2

p.D52N

c.154G>A

1 paper

NM_001166108.2

p.K62K

c.186G>A

1 paper

NM_001166108.2

p.I64T

c.191T>C

2 papers

NM_001166108.2

p.R47Q

c.140G>A

1 paper

NM_001166108.2

p.R47W

c.139C>T

1 paper

NM_001166108.2

p.S65S

c.195G>A

1 paper

NM_001166108.2

p.S65_Q66insFs

c.195_196insA

1 paper

NM_001166108.2

p.S65_Q66insFs

c.195_196insT

1 paper

NM_001166108.2

p.L43V

c.127C>G

1 paper

NM_001166108.2

p.S35G

c.103A>G