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.A266S

c.796G>T

Surrounding Variants

3 papers

NM_203500.2

p.L268P

c.803T>C

3 papers

NM_203500.2

p.R269W

c.805C>T

1 paper

NM_203500.2

p.R269L

c.806G>T

2 papers

NM_203500.2

p.R269Q

c.806G>A

1 paper

NM_203500.2

p.A270V

c.809C>T

5 papers

NM_203500.2

p.R261P

c.782G>C

12 papers

NM_203500.2

p.V271L

c.811G>T

12 papers

NM_203500.2

p.V271L

c.811G>C

8 papers

NM_203500.2

p.V271M

c.811G>A

1 paper

NM_203500.2

p.A270delFs

c.810delG

9 papers

NM_203500.2

p.R261W

c.781C>T

1 paper

NM_203500.2

p.V271E

c.812T>A