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

1 paper

NM_005032.7

p.E270K

c.808G>A

Surrounding Variants

1 paper

NM_005032.7

p.P269fs

c.805_806fs

1 paper

NM_005032.7

p.S268C

c.803C>G

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

2 papers

NM_005032.7

p.W276*

c.827G>A

1 paper

NM_005032.7

p.W276*

c.828G>A

1 paper

NM_005032.7

p.A277del1

c.829_831delGCA

1 paper

NM_005032.7

p.E263K

c.787G>A

1 paper

NM_005032.7

p.E262Q

c.784G>C

4 papers

NM_005032.7

p.L281delFs

c.842delT

1 paper

NM_005032.7

p.L281fs

c.841_842fs