Varaico: Literature-Extracted Genetic Variants

LDB2

46 papers

RefSeq Summary

The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization dom...

Pfam Domains

LIM_bindaa 30–190UCSCLIM-domain binding protein

LIDaa 296–324UCSCLIM interaction domain (LID)

LIDaa 298–326UCSCLIM interaction domain (LID)

Gene Aliases

HGNC Name

LIM domain binding 2

HGNC Alias Symbol

CLIM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001290.5

p.S107W

c.320C>G

Surrounding Variants

1 paper

NM_001290.5

p.K108fs

c.322_323fs

1 paper

NM_001290.5

p.L104F

c.310C>T

1 paper

NM_001290.5

p.L100M

c.298C>A

1 paper

NM_001290.5

p.D99N

c.295G>A

1 paper

NM_001290.5

p.T117T

c.351G>A

1 paper

NM_001290.5

p.G96W

c.286G>T

1 paper

NM_001290.5

p.V92M

c.274G>A

1 paper

NM_001290.5

p.T83S

c.248C>G

2 papers

NM_001290.5

p.T83N

c.248C>A

1 paper

NM_001290.5

p.M153L

c.457A>T

1 paper

NM_001290.5

p.M153L

c.457A>C

2 papers

NM_001290.5

p.P170L

c.509C>T