Varaico: Literature-Extracted Genetic Variants

Gene:LHX2
Variant:p.C80S

LHX2

50 papers

RefSeq Summary

This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptiona...

Pfam Domains

LIMaa 53–110UCSCLIM domain
LIMaa 115–172UCSCLIM domain
Homeodomainaa 267–323UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox 2

HGNC Alias Symbols

LH-2; hLhx2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004789.4
p.C80S
c.239G>C
Surrounding Variants
1 paper
NM_004789.4
p.C80S
c.238T>A
1 paper
NM_004789.4
p.Y64F
c.191A>T
1 paper
NM_004789.4
p.G98insFs
c.293_294insC
1 paper
NM_004789.4
p.P43R
c.128C>G
1 paper
NM_004789.4
p.L138F
c.412C>T
1 paper
NM_004789.4
p.C146Y
c.437G>A
1 paper
NM_004789.4
p.N147D
c.439A>G
1 paper
NM_004789.4
p.F156insFs
c.467_468insT
1 paper
NM_004789.4
p.Q174H
c.522G>C
1 paper
NM_004789.4
p.Q174H
c.522G>T
1 paper
NM_004789.4
p.A191T
c.571G>A
1 paper
NM_004789.4
p.A196G
c.587C>G
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