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.C434S

c.1300T>A

Surrounding Variants

1 paper

NM_203500.2

p.C434S

c.1301G>C

1 paper

NM_203500.2

p.C434Y

c.1301G>A

1 paper

NM_203500.2

p.G433R

c.1297G>C

1 paper

NM_203500.2

p.G433S

c.1297G>A

1 paper

NM_203500.2

p.S431S

c.1293C>T

2 papers

NM_203500.2

p.H436R

c.1307A>G

2 papers

NM_203500.2

p.G430V

c.1289G>T

2 papers

NM_203500.2

p.G430D

c.1289G>A

16 papers

NM_203500.2

p.G430C

c.1288G>T

1 paper

NM_203500.2

p.G430S

c.1288G>A

5 papers

NM_203500.2

p.G429V

c.1286G>T

1 paper

NM_203500.2

p.G429D

c.1286G>A