Varaico: Literature-Extracted Genetic Variants

Gene:HAMP
Variant:p.T31delFs

HAMP

183 papers

RefSeq Summary

The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The prep...

Pfam Domains

Hepcidinaa 33–84UCSCHepcidin

Gene Aliases

HGNC Name

hepcidin antimicrobial peptide

HGNC Alias Symbols

LEAP-1; HEPC; HFE2B; LEAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_021175.4
p.T31delFs
c.93delG
Surrounding Variants
1 paper
NM_021175.4
p.T31T
c.93G>A
1 paper
NM_021175.4
p.Q30_T31Splc
c.91-1G>A
1 paper
NM_021175.4
p.G32fs
c.94_95fs
1 paper
NM_021175.4
p.Q30_T31Splc
c.91-1G>T
1 paper
NM_021175.4
p.G32fs
c.94_95fs
1 paper
NM_021175.4
p.G32G
c.96A>T
1 paper
NM_021175.4
p.Q33K
c.97C>A
1 paper
NM_021175.4
p.Q30_T31Splc
c.91-6T>C
1 paper
NM_021175.4
p.Q40*
c.118C>T
1 paper
NM_021175.4
p.Q40Q
c.120G>A
1 paper
NM_021175.4
p.D41G
c.122A>G
1 paper
NM_021175.4
p.R42del1
c.124_125delAGA
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