Varaico: Literature-Extracted Genetic Variants

Gene:LHX1
Variant:p.N273insFs

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
2 papers
NM_005568.5
p.N273insFs
c.817dupA
Surrounding Variants
1 paper
NM_005568.5
p.P272P
c.816C>A
1 paper
NM_005568.5
p.P272A
c.814C>G
1 paper
NM_005568.5
p.P275T
c.823C>A
1 paper
NM_005568.5
p.R264P
c.791G>C
4 papers
NM_005568.5
p.R264G
c.790C>G
1 paper
NM_005568.5
p.M258I
c.774G>A
1 paper
NM_005568.5
p.R257W
c.769C>T
1 paper
NM_005568.5
p.R253H
c.758G>A
1 paper
NM_005568.5
p.F251L
c.751T>C
1 paper
NM_005568.5
p.R248R
c.744C>T
1 paper
NM_005568.5
p.R247_R248del2
c.739_743del6
1 paper
NM_005568.5
p.A246S
c.736G>T
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