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

2 papers

NM_005032.7

p.G454E

c.1361G>A

Surrounding Variants

1 paper

NM_005032.7

p.P451P

c.1353G>A

11 papers

NM_005032.7

p.N446S

c.1337A>G

1 paper

NM_005032.7

p.K459_L460Splc

c.1377+17C>T

1 paper

NM_005032.7

p.D441_W442insC

c.1321_1325ins3

10 papers

NM_005032.7

p.L432*

c.1295T>A

8 papers

NM_005032.7

p.L432*

c.1295T>G

2 papers

NM_005032.7

p.L432L

c.1294T>C

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

1 paper

NM_005032.7

p.G470E

c.1409G>A

9 papers

NM_005032.7

p.K475R

c.1424A>G