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.Q402R

c.1205A>G

Surrounding Variants

1 paper

NM_203500.2

p.Q402Q

c.1206G>A

6 papers

NM_203500.2

p.Q402*

c.1204C>T

1 paper

NM_203500.2

p.W403R

c.1207T>C

1 paper

NM_203500.2

p.W403R

c.1207T>A

1 paper

NM_203500.2

p.W403S

c.1208G>C

1 paper

NM_203500.2

p.W403delFs

c.1209delC

3 papers

NM_203500.2

p.S404L

c.1211C>T

1 paper

NM_203500.2

p.T400I

c.1199C>T

1 paper

NM_203500.2

p.S404*

c.1211C>A

2 papers

NM_203500.2

p.W403_S404del1

c.1208_1210delACC

1 paper

NM_203500.2

p.P405S

c.1213C>T

1 paper

NM_203500.2

p.S404del1

c.1210_1212delCGA