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

5 papers

NM_005032.7

p.E249*

c.745G>T

Surrounding Variants

1 paper

NM_005032.7

p.E249Q

c.745G>C

6 papers

NM_005032.7

p.E249_A250ins12

c.745_749ins36

16 papers

NM_005032.7

p.A250Splc

c.748+1G>A

1 paper

NM_005032.7

p.N248_E249del0

c.742_747del6

1 paper

NM_005032.7

p.A241T

c.721G>A

1 paper

NM_005032.7

p.A241insFs

c.722_723insC

1 paper

NM_005032.7

p.G238S

c.712G>A

1 paper

NM_005032.7

p.I235V

c.703A>G

1 paper

NM_005032.7

p.W232C

c.696G>C

1 paper

NM_005032.7

p.W232C

c.696G>T

3 papers

NM_005032.7

p.G229R

c.685G>A

3 papers

NM_005032.7

p.G229R

c.685G>C