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.A44T

c.130G>A

Surrounding Variants

1 paper

NM_005032.7

p.E43Q

c.127G>C

1 paper

NM_005032.7

p.L37P

c.110T>C

1 paper

NM_005032.7

p.E36A

c.107A>C

1 paper

NM_005032.7

p.E36K

c.106G>A

1 paper

NM_005032.7

p.L62L

c.184C>T

1 paper

NM_005032.7

p.L26fs

c.76_77fs

1 paper

NM_005032.7

p.D25insFs

c.75dupT

14 papers

NM_005032.7

p.D25fs

c.73_74fs

1 paper

NM_005032.7

p.D25Splc

c.74-1G>T

1 paper

NM_005032.7

p.D65A

c.194A>C

1 paper

NM_005032.7

p.D69A

c.206A>C

6 papers

NM_005032.7

p.D25Splc

c.74-24T>A