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.R204G

c.610C>G

Surrounding Variants

1 paper

NM_203500.2

p.R204W

c.610C>T

1 paper

NM_203500.2

p.R204L

c.611G>T

6 papers

NM_203500.2

p.R204P

c.611G>C

1 paper

NM_203500.2

p.A203fs

c.607_608fs

1 paper

NM_203500.2

p.A203V

c.608C>T

1 paper

NM_203500.2

p.E205*

c.613G>T

1 paper

NM_203500.2

p.E205Q

c.613G>C

1 paper

NM_203500.2

p.A203T

c.607G>A

2 papers

NM_203500.2

p.R202H

c.605G>A

2 papers

NM_203500.2

p.Y206N

c.616T>A

3 papers

NM_203500.2

p.Q201*

c.601C>T

1 paper

NM_203500.2

p.I207S

c.620T>G