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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIMK2

Variant:p.W10C

LIMK2

67 papers

RefSeq Summary

There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc ...

Pfam Domains

LIMaa 12–68UCSCLIM domain

LIMaa 72–129UCSCLIM domain

PDZaa 152–236UCSCPDZ domain

PK_Tyr_Ser-Thraa 331–601UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

LIM domain kinase 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr22:31225733 G>T

NM_005569.4

p.W10C

c.30G>T

exact variant not in gnomAD8 overlapping SVs

Surrounding Variants

1 paper

chr22:31225733 G>C

NM_005569.4

p.W10C

c.30G>C

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:31225756 A>T

NM_005569.4

p.H18L

c.53A>T

LIM

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:31225762 C>T

NM_005569.4

p.A20V

c.59C>T

LIM

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:31225779 T>C

NM_005569.4

p.Y26H

c.76T>C

LIM

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:31225793 C>A

NM_005569.4

p.N30K

c.90C>A

LIM

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:31225801 G>A

NM_005569.4

p.W33*

c.98G>A

LIM

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:31225802 G>A

NM_005569.4

p.W33*

c.99G>A

LIM

Exome: 0.0% (AC=6, hom=0)Genome: n/a8 overlapping SVs

3 papers

chr22:31225806 G>A

NM_005569.4

p.G35S

c.103G>A

LIM

Exome: 12.4% (AC=181378, hom=14683)Genome: 23.0% (AC=35026, hom=6183)8 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."