Varaico: Literature-Extracted Genetic Variants

Gene:HOXB3
Variant:p.L125R

HOXB3

53 papers

RefSeq Summary

This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encode...

Pfam Domains

Homeodomainaa 189–245UCSCHomeodomain
DUF4074aa 365–429UCSCDomain of unknown function (DUF4074)

Gene Aliases

HGNC Name

homeobox B3

HGNC Previous Symbols

HOX2; HOX2G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384749.1
p.L125R
c.374T>G
Surrounding Variants
1 paper
NM_001384749.1
p.G120C
c.358G>T
1 paper
NM_001384749.1
p.K116*
c.346A>T
1 paper
NM_001384749.1
p.S136L
c.407C>T
1 paper
NM_001384749.1
p.P147P
c.441C>T
1 paper
NM_001384749.1
p.S101G
c.301A>G
1 paper
NM_001384749.1
p.T97N
c.290C>A
1 paper
NM_001384749.1
p.P96_T97Fs
c.286_289delinsTCCCGFs
1 paper
NM_001384749.1
p.S89T
c.265T>A
1 paper
NM_001384749.1
p.L83fs
c.247_248fs
1 paper
NM_001384749.1
p.L83delFs
c.247delG
2 papers
NM_001384749.1
p.P82T
c.244C>A
1 paper
NM_001384749.1
p.E81V
c.242A>T
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