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

4 papers

NM_001166108.2

p.T425N

c.1274C>A

Surrounding Variants

2 papers

NM_001166108.2

p.T425S

c.1274C>G

2 papers

NM_001166108.2

p.T425S

c.1273A>T

1 paper

NM_001166108.2

p.P424L

c.1271C>T

2 papers

NM_001166108.2

p.R430*

c.1288C>T

2 papers

NM_001166108.2

p.G433R

c.1297G>A

2 papers

NM_001166108.2

p.G433R

c.1297G>C

1 paper

NM_001166109.2

p.V28A

c.83T>C

1 paper

NM_001166108.2

p.T408fs

c.1222_1223fs

1 paper

NM_001166108.2

p.T407delFs

c.1221delC

2 papers

NM_001166108.2

p.K403N

c.1209G>C

1 paper

NM_001166108.2

p.I397T

c.1190T>C

2 papers

NM_001166108.2

p.Q387fs

c.1159_1160fs