Varaico: Literature-Extracted Genetic Variants

Gene:LHX1
Variant:p.K48delFs

LHX1

118 papers

RefSeq Summary

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the developm...

Pfam Domains

LIMaa 4–59UCSCLIM domain
LIMaa 63–122UCSCLIM domain
Homeodomainaa 181–237UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox 1

HGNC Alias Symbols

LIM-1; LIM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005568.5
p.K48delFs
c.142_143delAA
Surrounding Variants
1 paper
NM_005568.5
p.K48fs
c.142_143fs
1 paper
NM_005568.5
p.C42fs
c.124_125fs
1 paper
NM_005568.5
p.N53K
c.159C>A
1 paper
NM_005568.5
p.N53K
c.159C>G
1 paper
NM_005568.5
p.C42delFs
c.124delT
1 paper
NM_005568.5
p.V26fs
c.76_77fs
1 paper
NM_005568.5
p.A23delFs
c.69delC
1 paper
NM_005568.5
p.L20V
c.58C>G
1 paper
NM_005568.5
p.L20insFs
c.58_59ins7
1 paper
NM_005568.5
p.R9fs
c.25_26fs
1 paper
NM_005568.5
p.K8fs
c.22_23fs
2 papers
NM_005568.5
p.R9insFs
c.25dupA
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