Varaico: Literature-Extracted Genetic Variants

PXN

209 papers

RefSeq Summary

This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encodin...

Pfam Domains

Paxillinaa 3–275UCSCPaxillin family

Paxillinaa 5–277UCSCPaxillin family

LIMaa 358–413UCSCLIM domain

LIMaa 417–472UCSCLIM domain

Gene Aliases

HGNC Name

paxillin

Papers

RefSeq ID

Protein change

DNA change

1–12 of 128 variants

8 papers

NM_001385981.1

p.I43F

c.127A>T

8 papers

NM_001385981.1

p.A127T

c.379G>A

6 papers

NM_001385981.1

p.S73G

c.217A>G

6 papers

NM_001385981.1

p.Y118F

c.353A>T

5 papers

NM_001385981.1

p.S752P

c.2254T>C

4 papers

NM_001385981.1

p.Y31F

c.92A>T

4 papers

NM_001385981.1

p.Y88F

c.263A>T

3 papers

NM_001385981.1

p.P233L

c.698C>T

3 papers

NM_001385981.1

p.T255I

c.764C>T

2 papers

NM_001385981.1

p.P30S

c.88C>T

2 papers

NM_001385981.1

p.S32L

c.95C>T

2 papers

NM_001385981.1

p.I43N

c.128T>A