Varaico: Literature-Extracted Genetic Variants

PLS3

143 papers

RefSeq Summary

Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and ...

Pfam Domains

EF-hand_7aa 14–82UCSCEF-hand domain pair

CHaa 123–239UCSCCalponin homology (CH) domain

CHaa 267–379UCSCCalponin homology (CH) domain

CHaa 397–507UCSCCalponin homology (CH) domain

CHaa 518–628UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

plastin 3

HGNC Alias Symbol

T-plastin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_005032.7

p.Q491*

c.1471C>T

Surrounding Variants

1 paper

NM_005032.7

p.D485A

c.1454A>C

1 paper

NM_005032.7

p.G482G

c.1446A>C

2 papers

NM_005032.7

p.W499C

c.1497G>C

2 papers

NM_005032.7

p.W499C

c.1497G>T

18 papers

NM_005032.7

p.L478P

c.1433T>C

1 paper

NM_005032.7

p.R504Splc

c.1511+3A>G

9 papers

NM_005032.7

p.K475R

c.1424A>G

1 paper

NM_005032.7

p.G470E

c.1409G>A

1 paper

NM_005032.7

p.G470R

c.1408G>A

1 paper

NM_005032.7

p.G470R

c.1408G>C

1 paper

NM_005032.7

p.G470W

c.1408G>T

2 papers

NM_005032.7

p.R504Splc

c.1511+82T>C