Varaico: Literature-Extracted Genetic Variants

Gene:HBE1
Variant:p.K9M

HBE1

94 papers

RefSeq Summary

The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; t...

Pfam Domains

Globinaa 26–142UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit epsilon 1

HGNC Previous Name

hemoglobin, epsilon 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005330.4
p.K9M
c.26A>T
Surrounding Variants
1 paper
NM_005330.4
p.E8K
c.22G>A
2 papers
NM_005330.4
p.V12A
c.35T>C
1 paper
NM_005330.4
p.A6G
c.17C>G
1 paper
NM_005330.4
p.T13S
c.37A>T
1 paper
NM_005330.4
p.T13S
c.38C>G
1 paper
NM_005330.4
p.H3L
c.8A>T
1 paper
NM_005330.4
p.W16C
c.48G>C
2 papers
NM_005330.4
p.M1R
c.2T>G
1 paper
NM_005330.4
p.M1K
c.2T>A
1 paper
NM_005330.4
p.K18*
c.52A>T
1 paper
NM_005330.4
p.E23Q
c.67G>C
2 papers
NM_005330.4
p.E27K
c.79G>A
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