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.A191P

c.571G>C

Surrounding Variants

2 papers

NM_203500.2

p.A191T

c.571G>A

1 paper

NM_203500.2

p.F190fs

c.568_569fs

3 papers

NM_203500.2

p.E192K

c.574G>A

1 paper

NM_203500.2

p.E192fs

c.574_575fs

2 papers

NM_203500.2

p.N189I

c.566A>T

2 papers

NM_203500.2

p.Q193*

c.577C>T

1 paper

NM_203500.2

p.N189Y

c.565A>T

1 paper

NM_203500.2

p.N189D

c.565A>G

1 paper

NM_203500.2

p.A188A

c.564C>T

5 papers

NM_203500.2

p.Q193H

c.579G>T

6 papers

NM_203500.2

p.Q193H

c.579G>C

2 papers

NM_203500.2

p.A188T

c.562G>A