Varaico: Literature-Extracted Genetic Variants

HEPH

87 papers

RefSeq Summary

This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulator...

Pfam Domains

Cu-oxidase_3aa 80–209UCSCMulticopper oxidase

Cu-oxidaseaa 230–367UCSCMulticopper oxidase

Cu-oxidase_3aa 452–563UCSCMulticopper oxidase

Cu-oxidase_2aa 942–1065UCSCMulticopper oxidase

Gene Aliases

HGNC Name

hephaestin

HGNC Alias Symbols

KIAA0698; CPL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367233.3

p.G43R

c.127G>C

Surrounding Variants

1 paper

NM_001367233.3

p.G31D

c.92G>A

1 paper

NM_001367233.3

p.Y28F

c.83A>T

1 paper

NM_001367233.3

p.Q14_Q19delFs

c.42_57del16

1 paper

NM_001367233.3

p.W8_A9del0

c.22_27del6

1 paper

NM_001367233.3

p.G4_M13delFs

c.10_38del29

1 paper

NM_001367233.3

p.S3*

c.8C>G

1 paper

NM_001367233.3

p.S3fs

c.7_8fs

1 paper

NM_001367233.3

p.M1V

c.1A>G

1 paper

NM_001367233.3

p.I77N

c.230T>A

1 paper

NM_001367233.3

p.K82M

c.245A>T

1 paper

NM_001367233.3

p.D84E

c.252C>A

1 paper

NM_001367233.3

p.D84E

c.252C>G