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.A253_L254ins1

c.759_760insAAT

Surrounding Variants

1 paper

NM_005032.7

p.L254ins1

c.760_761insAAT

1 paper

NM_005032.7

p.L251L

c.753G>A

1 paper

NM_005032.7

p.L251F

c.753G>C

1 paper

NM_005032.7

p.L251F

c.753G>T

13 papers

NM_005032.7

p.R256*

c.766C>T

1 paper

NM_005032.7

p.G258S

c.772G>A

1 paper

NM_005032.7

p.G258V

c.773G>T

1 paper

NM_005032.7

p.E262Q

c.784G>C

1 paper

NM_005032.7

p.E263K

c.787G>A

1 paper

NM_005032.7

p.M265I

c.795G>A

1 paper

NM_005032.7

p.M265I

c.795G>C

1 paper

NM_005032.7

p.M265I

c.795G>T