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.D226D

c.678C>T

Surrounding Variants

1 paper

NM_001166108.2

p.Q227insFs

c.679_680insAG

3 papers

NM_001166108.2

p.G228E

c.683G>A

4 papers

NM_001166108.2

p.M224I

c.672G>A

4 papers

NM_001166108.2

p.M224I

c.672G>C

4 papers

NM_001166108.2

p.M224I

c.672G>T

5 papers

NM_001166108.2

p.M224T

c.671T>C

3 papers

NM_001166108.2

p.M224delins

c.671_672delinsCA

1 paper

NM_001166108.2

p.E231insFs

c.692_693insT

1 paper

NM_001166108.2

p.E231_R232insFs

c.693_694insG

1 paper

NM_001166108.2

p.A213A

c.639C>G

1 paper

NM_001166108.2

p.Q210K

c.628C>A

1 paper

NM_001166108.2

p.Q244*

c.730C>T