Varaico: Literature-Extracted Genetic Variants

Gene:HBE1
Variant:p.F46V

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.F46V
c.136T>G
Surrounding Variants
1 paper
NM_005330.4
p.D44_S45insFs
c.132_133insTT
1 paper
NM_005330.4
p.F43L
c.127T>C
1 paper
NM_005330.4
p.F42L
c.124T>C
1 paper
NM_005330.4
p.P52S
c.154C>T
1 paper
NM_005330.4
p.Q40*
c.118C>T
1 paper
NM_005330.4
p.W38*
c.114G>A
1 paper
NM_005330.4
p.G57D
c.170G>A
3 papers
NM_005330.4
p.R31Splc
c.93-1G>T
3 papers
NM_005330.4
p.R31Splc
c.93-1G>A
3 papers
NM_005330.4
p.R31Splc
c.93-6T>C
1 paper
NM_005330.4
p.R31Splc
c.92+5G>C
1 paper
NM_005330.4
p.R31Splc
c.92+5G>A
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