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

19 papers

NM_203500.2

p.D422N

c.1264G>A

Surrounding Variants

1 paper

NM_203500.2

p.D422Y

c.1264G>T

1 paper

NM_203500.2

p.D422H

c.1264G>C

1 paper

NM_203500.2

p.D422E

c.1266T>G

1 paper

NM_203500.2

p.D422E

c.1266T>A

1 paper

NM_203500.2

p.G423fs

c.1267_1268fs

12 papers

NM_203500.2

p.G423V

c.1268G>T

1 paper

NM_203500.2

p.V420F

c.1258G>T

1 paper

NM_203500.2

p.H424R

c.1271A>G

1 paper

NM_203500.2

p.G419V

c.1256G>T

4 papers

NM_203500.2

p.G419W

c.1255G>T

1 paper

NM_203500.2

p.V418_H424del7

c.1252_1271del21

1 paper

NM_203500.2

p.V418G

c.1253T>G