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.F30V

c.88T>G

Surrounding Variants

1 paper

NM_001271608.2

p.R5*

c.13C>T

1 paper

NM_006148.4

p.H26D

c.76C>G

1 paper

NM_006148.4

p.M41T

c.122T>C

1 paper

NM_006148.4

p.K42R

c.125A>G

2 papers

NM_006148.4

p.Y47Y

c.141C>T

1 paper

NM_006148.4

p.P14L

c.41C>T

1 paper

NM_006148.4

p.K10R

c.29A>G

1 paper

NM_006148.4

p.A6A

c.18C>G

1 paper

NM_006148.4

p.P3S

c.7C>T

1 paper

NM_006148.4

p.M1I

c.3G>A

1 paper

NM_006148.4

p.M1I

c.3G>C

1 paper

NM_006148.4

p.M1_N2insFs

c.3_4insA