Varaico: Literature-Extracted Genetic Variants

LASP1

40 papers

RefSeq Summary

This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The en...

Pfam Domains

LIMaa 5–61UCSCLIM domain

Nebulinaa 67–94UCSCNebulin repeat

Nebulinaa 103–130UCSCNebulin repeat

SH3_9aa 209–259UCSCVariant SH3 domain

Gene Aliases

HGNC Name

LIM and SH3 protein 1

HGNC Alias Symbols

MLN50; Lasp-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006148.4

p.A215T

c.643G>A

Surrounding Variants

1 paper

NM_006148.4

p.R208R

c.624C>T

1 paper

NM_006148.4

p.G226W

c.676G>T

1 paper

NM_006148.4

p.I229I

c.687C>T

1 paper

NM_006148.4

p.G248R

c.742G>C

1 paper

NM_006148.4

p.I195T

c.584T>C

1 paper

NM_006148.4

p.V170F

c.508G>T

1 paper

NM_006148.4

p.P165L

c.494C>T

2 papers

NM_006148.4

p.S146S

c.438A>G

1 paper

NM_006148.4

p.E140*

c.418G>T

1 paper

NM_006148.4

p.S134R

c.402C>A

1 paper

NM_006148.4

p.S134R

c.402C>G

1 paper

NM_006148.4

p.S134R

c.400A>C