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

1–12 of 198 variants

18 papers

NM_005032.7

p.L478P

c.1433T>C

16 papers

NM_005032.7

p.Y79delFs

c.235delT

16 papers

NM_005032.7

p.A250Splc

c.748+1G>A

15 papers

NM_005032.7

p.A253_L254ins1

c.759_760insAAT

15 papers

NM_005032.7

p.A368D

c.1103C>A

15 papers

NM_005032.7

p.Q491*

c.1471C>T

14 papers

NM_005032.7

p.D25fs

c.73_74fs

13 papers

NM_005032.7

p.R256*

c.766C>T

12 papers

NM_005032.7

p.S550fs

c.1648_1649fs

11 papers

NM_005032.7

p.N446S

c.1337A>G

11 papers

NM_005032.7

p.I549delFs

c.1647delC

10 papers

NM_005032.7

p.N366_L367delFs

c.1096_1100del5