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.P5S

c.13C>T

Surrounding Variants

1 paper

NM_203500.2

p.P5R

c.14C>G

1 paper

NM_203500.2

p.R6_P7insFs

c.18_19insA

1 paper

NM_203500.2

p.P7delFs

c.19delG

1 paper

NM_203500.2

p.M1Fs

c.2delinsTGFs

1 paper

NM_203500.2

p.S8R

c.22A>C

1 paper

NM_203500.2

p.M1fs

c.1_2fs

1 paper

NM_203500.2

p.M1I

c.3G>A

1 paper

NM_203500.2

p.S8R

c.24C>G

1 paper

NM_203500.2

p.S8R

c.24C>A

5 papers

NM_203500.2

p.G9R

c.25G>C

7 papers

NM_203500.2

p.G9R

c.25G>A

1 paper

NM_203500.2

p.M1delins

c.1delinsGCAC