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.Q46fs

c.136_137fs

Surrounding Variants

4 papers

NM_203500.2

p.Q46*

c.136C>T

1 paper

NM_203500.2

p.S45delFs

c.134_135delGG

6 papers

NM_203500.2

p.S45F

c.134C>T

1 paper

NM_203500.2

p.S45A

c.133T>G

1 paper

NM_203500.2

p.S45P

c.133T>C

1 paper

NM_203500.2

p.H47Y

c.139C>T

1 paper

NM_203500.2

p.P44S

c.130C>T

4 papers

NM_203500.2

p.T43M

c.128C>T

3 papers

NM_203500.2

p.N49I

c.146A>T

1 paper

NM_203500.2

p.N49T

c.146A>C

1 paper

NM_203500.2

p.V42L

c.124G>T

1 paper

NM_203500.2

p.V42L

c.124G>C