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.A337T

c.1009G>A

Surrounding Variants

1 paper

NM_005032.7

p.T331R

c.992C>G

7 papers

NM_005032.7

p.D332delFs

c.994_995delGA

2 papers

NM_005032.7

p.D345G

c.1034A>G

2 papers

NM_005032.7

p.R350_Q351delFs

c.1050_1053del4

1 paper

NM_005032.7

p.R350fs

c.1048_1049fs

1 paper

NM_005032.7

p.F352L

c.1054T>C

1 paper

NM_005032.7

p.F352L

c.1056T>A

1 paper

NM_005032.7

p.F352L

c.1056T>G

1 paper

NM_005032.7

p.K364E

c.1090A>G

10 papers

NM_005032.7

p.N366_L367delFs

c.1096_1100del5

5 papers

NM_005032.7

p.N366fs

c.1096_1097fs

15 papers

NM_005032.7

p.A368D

c.1103C>A