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.G464C

c.1390G>T

Surrounding Variants

3 papers

NM_203500.2

p.G464V

c.1391G>T

1 paper

NM_203500.2

p.V463fs

c.1387_1388fs

2 papers

NM_203500.2

p.V465M

c.1393G>A

1 paper

NM_203500.2

p.G462V

c.1385G>T

1 paper

NM_203500.2

p.G462E

c.1385G>A

3 papers

NM_203500.2

p.G462W

c.1384G>T

1 paper

NM_203500.2

p.G462R

c.1384G>C

1 paper

NM_203500.2

p.G462R

c.1384G>A

1 paper

NM_203500.2

p.R459_I461delFs

c.1376_1382del7

1 paper

NM_203500.2

p.V463_A466delFs

c.1387_1396del10

2 papers

NM_203500.2

p.I461T

c.1382T>C

1 paper

NM_203500.2

p.T458_R460del3

c.1372_1379del9