Varaico: Literature-Extracted Genetic Variants

Gene:HHEX
Variant:p.L211S

HHEX

168 papers

RefSeq Summary

This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this prot...

Pfam Domains

Homeodomainaa 138–194UCSCHomeodomain

Gene Aliases

HGNC Name

hematopoietically expressed homeobox

HGNC Previous Symbol

PRHX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002729.5
p.L211S
c.632T>C
Surrounding Variants
1 paper
NM_002729.5
p.S210T
c.629G>C
1 paper
NM_002729.5
p.E209K
c.625G>A
1 paper
NM_002729.5
p.R218G
c.652A>G
1 paper
NM_002729.5
p.K204T
c.611A>C
2 papers
NM_002729.5
p.K204R
c.611A>G
1 paper
NM_002729.5
p.N203H
c.607A>C
1 paper
NM_002729.5
p.P222P
c.666C>A
1 paper
NM_002729.5
p.P200A
c.598C>G
1 paper
NM_002729.5
p.E224K
c.670G>A
1 paper
NM_002729.5
p.Q197_E198Splc
c.592-22C>T
3 papers
NM_002729.5
p.S234C
c.701C>G
1 paper
NM_002729.5
p.P240delFs
c.719_720delCT
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