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.S257F

c.770C>T

Surrounding Variants

2 papers

NM_001166108.2

p.R255H

c.764G>A

2 papers

NM_001166108.2

p.A264T

c.790G>A

1 paper

NM_001166108.2

p.A264D

c.791C>A

1 paper

NM_001166108.2

p.L249insFs

c.745_746insA

1 paper

NM_001166108.2

p.L249delFs

c.746delT

2 papers

NM_001166108.2

p.D245N

c.733G>A

1 paper

NM_001166108.2

p.Q244R

c.731A>G

1 paper

NM_001166108.2

p.Q244*

c.730C>T

2 papers

NM_001166108.2

p.P271H

c.812C>A

1 paper

NM_001166108.2

p.R272*

c.814C>T

1 paper

NM_001166108.2

p.Q275*

c.823C>T

1 paper

NM_001166108.2

p.E231_R232insFs

c.693_694insG