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

4 papers

NM_203500.2

p.V428F

c.1282G>T

Surrounding Variants

4 papers

NM_203500.2

p.A427V

c.1280C>T

2 papers

NM_203500.2

p.G429S

c.1285G>A

5 papers

NM_203500.2

p.G429V

c.1286G>T

1 paper

NM_203500.2

p.G429D

c.1286G>A

3 papers

NM_203500.2

p.Y426C

c.1277A>G

16 papers

NM_203500.2

p.G430C

c.1288G>T

1 paper

NM_203500.2

p.G430S

c.1288G>A

2 papers

NM_203500.2

p.G430V

c.1289G>T

2 papers

NM_203500.2

p.G430D

c.1289G>A

2 papers

NM_203500.2

p.I425M

c.1275C>G

1 paper

NM_203500.2

p.V418_H424del7

c.1252_1271del21

1 paper

NM_203500.2

p.S431S

c.1293C>T