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.V453M

c.1357G>A

Surrounding Variants

1 paper

NM_203500.2

p.V453fs

c.1357_1358fs

1 paper

NM_203500.2

p.L452fs

c.1354_1355fs

1 paper

NM_203500.2

p.H451Y

c.1351C>T

1 paper

NM_203500.2

p.W450delFs

c.1350delC

1 paper

NM_203500.2

p.W450C

c.1350G>T

1 paper

NM_203500.2

p.W450C

c.1350G>C

1 paper

NM_203500.2

p.W450*

c.1350G>A

1 paper

NM_203500.2

p.P455L

c.1364C>T

1 paper

NM_203500.2

p.W450*

c.1349G>A

1 paper

NM_203500.2

p.P455fs

c.1363_1364fs

1 paper

NM_203500.2

p.W450fs

c.1348_1349fs

1 paper

NM_203500.2

p.E449D

c.1347G>C