Varaico: Literature-Extracted Genetic Variants

Gene:LHX2
Variant:p.V333M

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
2 papers
NM_004789.4
p.V333M
c.997G>A
Surrounding Variants
1 paper
NM_004789.4
p.R318L
c.953G>T
1 paper
NM_004789.4
p.N316K
c.948C>A
1 paper
NM_004789.4
p.N316K
c.948C>G
1 paper
NM_004789.4
p.W313*
c.939G>A
1 paper
NM_004789.4
p.W313*
c.938G>A
1 paper
NM_004789.4
p.T363M
c.1088C>T
1 paper
NM_004789.4
p.E390V
c.1169A>T
1 paper
NM_004789.4
p.E393*
c.1177G>T
1 paper
NM_004789.4
p.Q399H
c.1197A>C
1 paper
NM_004789.4
p.Q399H
c.1197A>T
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