Varaico: Literature-Extracted Genetic Variants

PLS1

82 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_6aa 15–45UCSCEF-hand domain

EF-hand_1aa 55–83UCSCEF hand domain

CHaa 122–238UCSCCalponin homology (CH) domain

CHaa 266–377UCSCCalponin homology (CH) domain

CHaa 395–505UCSCCalponin homology (CH) domain

CHaa 516–626UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

plastin 1

HGNC Previous Name

plastin 1 (I isoform)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001145319.2

p.F128S

c.383T>C

Surrounding Variants

1 paper

NM_001145319.2

p.L155F

c.463C>T

1 paper

NM_001145319.2

p.E173delins

c.517_519delinsCAA

1 paper

NM_001145319.2

p.T176_T191del16

c.526_572del48

1 paper

NM_001145319.2

p.A181D

c.542C>A

1 paper

NM_001145319.2

p.T188M

c.563C>T

1 paper

NM_001145319.2

p.I192V

c.574A>G

1 paper

NM_001145319.2

p.G106G

c.318A>T

1 paper

NM_001145319.2

p.G101E

c.302G>A

1 paper

NM_001145319.2

p.E100D

c.300A>T

4 papers

NM_001145319.2

p.E100A

c.299A>C

1 paper

NM_001145319.2

p.E100delFs

c.299_300delAA

1 paper

NM_001145319.2

p.K84I

c.251A>T