Varaico: Literature-Extracted Genetic Variants

Gene:LHX1
Variant:p.V83delFs

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.V83delFs
c.247_248delGT
Surrounding Variants
1 paper
NM_005568.5
p.V83fs
c.247_248fs
1 paper
NM_005568.5
p.R77_R78delFs
c.231_232delGA
1 paper
NM_005568.5
p.V76L
c.226G>T
1 paper
NM_005568.5
p.L75_V76insFs
c.225_226insAC
1 paper
NM_005568.5
p.L75Q
c.224T>A
1 paper
NM_005568.5
p.D74_A79delFs
c.221_236del16
1 paper
NM_005568.5
p.Q68H
c.204G>C
1 paper
NM_005568.5
p.Q68H
c.204G>T
1 paper
NM_005568.5
p.Q97*
c.289C>T
1 paper
NM_005568.5
p.G101V
c.302G>T
1 paper
NM_005568.5
p.A64delFs
c.190_191delGC
1 paper
NM_005568.5
p.L104fs
c.310_311fs
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