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.I397T

c.1190T>C

Surrounding Variants

2 papers

NM_001166108.2

p.K403N

c.1209G>C

1 paper

NM_001166108.2

p.T407delFs

c.1221delC

2 papers

NM_001166108.2

p.Q387fs

c.1159_1160fs

1 paper

NM_001166108.2

p.T408fs

c.1222_1223fs

2 papers

NM_001166108.2

p.A386_Q387delFs

c.1158_1159delTC

1 paper

NM_001166109.2

p.V28A

c.83T>C

1 paper

NM_001166108.2

p.M383I

c.1149G>A

1 paper

NM_001166108.2

p.M383I

c.1149G>C

1 paper

NM_001166108.2

p.M383I

c.1149G>T

1 paper

NM_001166108.2

p.F376F

c.1128C>T

1 paper

NM_001166108.2

p.F376insFs

c.1126_1127insTT

1 paper

NM_001166108.2

p.L374*

c.1121T>A