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.S102T

c.304T>A

Surrounding Variants

1 paper

NM_203500.2

p.S102A

c.304T>G

10 papers

NM_203500.2

p.S102L

c.305C>T

1 paper

NM_203500.2

p.A101V

c.302C>T

1 paper

NM_203500.2

p.S103P

c.307T>C

1 paper

NM_203500.2

p.A101T

c.301G>A

1 paper

NM_203500.2

p.S103Y

c.308C>A

2 papers

NM_203500.2

p.L100P

c.299T>C

2 papers

NM_203500.2

p.S104G

c.310A>G

2 papers

NM_203500.2

p.S104R

c.310A>C

1 paper

NM_203500.2

p.S104I

c.311G>T

1 paper

NM_203500.2

p.V99A

c.296T>C

2 papers

NM_203500.2

p.S104R

c.312C>G