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

1 paper

NM_001145319.2

p.V31D

c.92T>A

Surrounding Variants

1 paper

NM_001145319.2

p.G29R

c.85G>A

1 paper

NM_001145319.2

p.G29R

c.85G>C

1 paper

NM_001145319.2

p.R53H

c.158G>A

1 paper

NM_001145319.2

p.R53R

c.159C>T

1 paper

NM_001145319.2

p.E57A

c.170A>C

1 paper

NM_001145319.2

p.I59_D64delFs

c.176_191del16

1 paper

NM_001145319.2

p.L60V

c.178C>G

4 papers

NM_001145319.2

p.S65T

c.194G>C

1 paper

NM_001145319.2

p.F76C

c.227T>G

1 paper

NM_001145319.2

p.V77L

c.229G>C

1 paper

NM_001145319.2

p.S78L

c.233C>T

1 paper

NM_001145319.2

p.K84I

c.251A>T