Varaico: Literature-Extracted Genetic Variants

LCP1

102 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_1aa 13–41UCSCEF hand domain

CHaa 120–236UCSCCalponin homology (CH) domain

CHaa 264–376UCSCCalponin homology (CH) domain

CHaa 394–504UCSCCalponin homology (CH) domain

CHaa 515–625UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

lymphocyte cytosolic protein 1

HGNC Alias Symbols

PLS2; CP64; L-PLASTIN; LC64P

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002298.5

p.K183K

c.549G>A

Surrounding Variants

1 paper

NM_002298.5

p.T186N

c.557C>A

1 paper

NM_002298.5

p.E177D

c.531A>T

1 paper

NM_002298.5

p.E177D

c.531A>C

1 paper

NM_002298.5

p.D176Y

c.526G>T

3 papers

NM_002298.5

p.I175T

c.524T>C

2 papers

NM_002298.5

p.S170L

c.509C>T

1 paper

NM_002298.5

p.V162D

c.485T>A

1 paper

NM_002298.5

p.G160G

c.480C>T

1 paper

NM_002298.5

p.V157I

c.469G>A

1 paper

NM_002298.5

p.V143L

c.427G>C

1 paper

NM_002298.5

p.R141R

c.423G>A

1 paper

NM_002298.5

p.R141W

c.421C>T