Varaico: Literature-Extracted Genetic Variants

Gene:LDB1
Variant:p.L330H

LDB1

63 papers

Pfam Domains

LIM_bindaa 69–271UCSCLIM-domain binding protein
LIDaa 334–362UCSCLIM interaction domain (LID)
LIDaa 336–364UCSCLIM interaction domain (LID)

Gene Aliases

HGNC Name

LIM domain binding 1

HGNC Alias Symbols

NLI; CLIM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001113407.3
p.L330H
c.989T>A
Surrounding Variants
1 paper
NM_001113407.3
p.L330fs
c.988_989fs
1 paper
NM_001113407.3
p.A325fs
c.973_974fs
1 paper
NM_001113407.3
p.P335_D336Splc
c.1005+2T>A
1 paper
NM_003893.5
p.S283_K284delFs
c.849_852del4
1 paper
NM_001113407.3
p.S319fs
c.955_956fs
1 paper
NM_003893.5
p.S283fs
c.847_848fs
1 paper
NM_001113407.3
p.T314delFs
c.942delG
1 paper
NM_001113407.3
p.S309insFs
c.926_927insG
1 paper
NM_001113407.3
p.S309insFs
c.926_927insA
1 paper
NM_003893.5
p.G268fs
c.802_803fs
1 paper
NM_003893.5
p.S266_G267delFs
c.798_799delCT
1 paper
NM_001113407.3
p.S302fs
c.904_905fs
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