Varaico: Literature-Extracted Genetic Variants

Gene:LHX1
Variant:p.K204N

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.K204N
c.612G>C
Surrounding Variants
2 papers
NM_005568.5
p.K204N
c.612G>T
1 paper
NM_005568.5
p.P205S
c.613C>T
1 paper
NM_005568.5
p.F199F
c.597C>T
1 paper
NM_005568.5
p.E211K
c.631G>A
1 paper
NM_005568.5
p.E216*
c.646G>T
1 paper
NM_005568.5
p.K190_Q191del1
c.569_571delAGC
1 paper
NM_005568.5
p.K190_Q191del2
c.568_572del6
1 paper
NM_005568.5
p.N220S
c.659A>G
1 paper
NM_005568.5
p.A189T
c.565G>A
1 paper
NM_005568.5
p.T186T
c.558C>A
1 paper
NM_005568.5
p.R184C
c.550C>T
1 paper
NM_005568.5
p.R181insFs
c.542dupG
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