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.G417E

c.1250G>A

Surrounding Variants

7 papers

NM_203500.2

p.G417V

c.1250G>T

2 papers

NM_203500.2

p.G417W

c.1249G>T

9 papers

NM_203500.2

p.G417R

c.1249G>C

10 papers

NM_203500.2

p.G417R

c.1249G>A

2 papers

NM_203500.2

p.V418L

c.1252G>T

2 papers

NM_203500.2

p.V418L

c.1252G>C

1 paper

NM_203500.2

p.V418G

c.1253T>G

2 papers

NM_203500.2

p.I416F

c.1246A>T

4 papers

NM_203500.2

p.G419W

c.1255G>T

1 paper

NM_203500.2

p.R415Fs

c.1243_1245delinsTFs

2 papers

NM_203500.2

p.R415L

c.1244G>T

1 paper

NM_203500.2

p.G419V

c.1256G>T