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

8 papers

NM_203500.2

p.R413L

c.1238G>T

Surrounding Variants

2 papers

NM_203500.2

p.R413H

c.1238G>A

3 papers

NM_203500.2

p.R413C

c.1237C>T

1 paper

NM_203500.2

p.R413S

c.1237C>A

1 paper

NM_203500.2

p.N414I

c.1241A>T

1 paper

NM_203500.2

p.N414S

c.1241A>G

5 papers

NM_203500.2

p.P412S

c.1234C>T

1 paper

NM_203500.2

p.V411fs

c.1231_1232fs

5 papers

NM_203500.2

p.R415C

c.1243C>T

7 papers

NM_203500.2

p.R415G

c.1243C>G

1 paper

NM_203500.2

p.R415fs

c.1243_1244fs

1 paper

NM_203500.2

p.V411insFs

c.1231_1232insG

2 papers

NM_203500.2

p.R415L

c.1244G>T