Varaico: Literature-Extracted Genetic Variants

KEAP1

869 papers

RefSeq Summary

This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the ...

Pfam Domains

BTBaa 67–179UCSCBTB/POZ domain

BACKaa 184–286UCSCBTB And C-terminal Kelch

Kelch_1aa 317–359UCSCKelch motif

Kelch_1aa 361–410UCSCKelch motif

Kelch_1aa 412–457UCSCKelch motif

Kelch_1aa 459–504UCSCKelch motif

Gene Aliases

HGNC Name

kelch like ECH associated protein 1

HGNC Alias Symbols

KIAA0132; MGC10630; MGC1114; MGC20887; MGC4407; MGC9454; INrf2; KLHL19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203500.2

p.K551N

c.1653G>C

Surrounding Variants

1 paper

NM_203500.2

p.K551N

c.1653G>T

1 paper

NM_203500.2

p.K551R

c.1652A>G

1 paper

NM_203500.2

p.K551*

c.1651A>T

1 paper

NM_203500.2

p.M550_K551insFs

c.1650_1651ins8

1 paper

NM_203500.2

p.M550insFs

c.1649_1650insA

1 paper

NM_203500.2

p.M550R

c.1649T>G

2 papers

NM_203500.2

p.M550K

c.1649T>A

1 paper

NM_203500.2

p.R553W

c.1657C>T

1 paper

NM_203500.2

p.R553Q

c.1658G>A

1 paper

NM_203500.2

p.M550fs

c.1648_1649fs

1 paper

NM_203500.2

p.M550V

c.1648A>G

4 papers

NM_203500.2

p.R554*

c.1660C>T