Varaico: Literature-Extracted Genetic Variants

PHACTR1

101 papers

RefSeq Summary

The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It ...

Pfam Domains

RPELaa 139–162UCSCRPEL repeat

RPELaa 423–446UCSCRPEL repeat

RPELaa 461–484UCSCRPEL repeat

RPELaa 499–520UCSCRPEL repeat

Gene Aliases

HGNC Name

phosphatase and actin regulator 1

HGNC Alias Symbols

KIAA1733; dJ257A7.2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 86 variants

9 papers

NM_030948.6

p.R521C

c.1561C>T

7 papers

NM_030948.6

p.L500P

c.1499T>C

6 papers

NM_030948.6

p.N479I

c.1436A>T

6 papers

NM_030948.6

p.I518N

c.1553T>A

6 papers

NM_030948.6

p.L519R

c.1556T>G

3 papers

NM_030948.6

p.P254A

c.760C>G

3 papers

NM_030948.6

p.S383L

c.1148C>T

3 papers

NM_030948.6

p.R536P

c.1607G>C

2 papers

NM_030948.6

p.R57Q

c.170G>A

2 papers

NM_030948.6

p.R64G

c.190C>G

2 papers

NM_030948.6

p.I171T

c.512T>C

2 papers

NM_030948.6

p.Q294H

c.882G>C