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

2 papers

NM_203500.2

p.C151W

c.453T>G

Surrounding Variants

20 papers

NM_203500.2

p.C151S

c.452G>C

3 papers

NM_203500.2

p.C151Y

c.452G>A

1 paper

NM_203500.2

p.V152I

c.454G>A

19 papers

NM_203500.2

p.C151S

c.451T>A

2 papers

NM_203500.2

p.L153F

c.457C>T

1 paper

NM_203500.2

p.L153V

c.457C>G

1 paper

NM_203500.2

p.K150M

c.449A>T

1 paper

NM_203500.2

p.K150R

c.449A>G

2 papers

NM_203500.2

p.E149D

c.447G>T

2 papers

NM_203500.2

p.E149D

c.447G>C

1 paper

NM_203500.2

p.E149G

c.446A>G

4 papers

NM_203500.2

p.E149*

c.445G>T