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.I145M

c.435C>G

Surrounding Variants

1 paper

NM_203500.2

p.I145N

c.434T>A

2 papers

NM_203500.2

p.I145F

c.433A>T

1 paper

NM_203500.2

p.S146S

c.438C>T

2 papers

NM_203500.2

p.S144S

c.432C>A

4 papers

NM_203500.2

p.S144F

c.431C>T

1 paper

NM_203500.2

p.G148V

c.443G>T

3 papers

NM_203500.2

p.A143P

c.427G>C

4 papers

NM_203500.2

p.E149*

c.445G>T

8 papers

NM_203500.2

p.E149K

c.445G>A

9 papers

NM_203500.2

p.T142M

c.425C>T

1 paper

NM_203500.2

p.T142K

c.425C>A

1 paper

NM_203500.2

p.A140_T142delFs

c.418_424del7