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

3 papers

NM_203500.2

p.Y345*

c.1035C>A

Surrounding Variants

3 papers

NM_203500.2

p.Y345*

c.1035C>G

2 papers

NM_203500.2

p.E343*

c.1027G>T

1 paper

NM_203500.2

p.E343K

c.1027G>A

1 paper

NM_203500.2

p.L342P

c.1025T>C

1 paper

NM_203500.2

p.L342M

c.1024C>A

1 paper

NM_203500.2

p.D349A

c.1046A>C

1 paper

NM_203500.2

p.G350R

c.1048G>C

8 papers

NM_203500.2

p.G350S

c.1048G>A

1 paper

NM_203500.2

p.T351fs

c.1051_1052fs

8 papers

NM_203500.2

p.S338L

c.1013C>T

1 paper

NM_203500.2

p.L353V

c.1057C>G

1 paper

NM_203500.2

p.R354W

c.1060C>T