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.D337E

c.1011C>G

Surrounding Variants

1 paper

NM_001166108.2

p.D337E

c.1011C>A

1 paper

NM_001166108.2

p.D337H

c.1009G>C

1 paper

NM_001166108.2

p.T339delFs

c.1017delA

1 paper

NM_001166108.2

p.F335Fs

c.1003delinsGAFs

1 paper

NM_001166108.2

p.I331_A332insTA

c.991_995ins6

1 paper

NM_001166108.2

p.T328T

c.984C>A

4 papers

NM_001166108.2

p.T347M

c.1040C>T

1 paper

NM_001166108.2

p.T347T

c.1041G>A

1 paper

NM_001166108.2

p.H327Y

c.979C>T

1 paper

NM_001166108.2

p.D325fs

c.973_974fs

1 paper

NM_001166108.2

p.G324W

c.970G>T

1 paper

NM_001166108.2

p.T355del1

c.1063_1065delACA