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.I207_G208del1

c.621_623delTGG

Surrounding Variants

1 paper

NM_005032.7

p.A206V

c.617C>T

1 paper

NM_005032.7

p.H210Y

c.628C>T

4 papers

NM_005032.7

p.A204P

c.610G>C

1 paper

NM_005032.7

p.S203C

c.608C>G

1 paper

NM_005032.7

p.L201P

c.602T>C

1 paper

NM_005032.7

p.E217K

c.649G>A

1 paper

NM_005032.7

p.L197delFs

c.589_590delTT

1 paper

NM_005032.7

p.Q194_E195Splc

c.583-3C>G

1 paper

NM_005032.7

p.G222W

c.664G>T

1 paper

NM_005032.7

p.G222G

c.666G>A

1 paper

NM_005032.7

p.P224_H225delFs

c.672_673delTC

1 paper

NM_005032.7

p.H225fs

c.673_674fs