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.V160G

c.479T>G

Surrounding Variants

1 paper

NM_203500.2

p.V160V

c.480C>G

1 paper

NM_203500.2

p.A159V

c.476C>T

3 papers

NM_203500.2

p.M161I

c.483G>T

3 papers

NM_203500.2

p.A159S

c.475G>T

1 paper

NM_203500.2

p.M161fs

c.481_482fs

3 papers

NM_203500.2

p.M161I

c.483G>C

2 papers

NM_203500.2

p.A159P

c.475G>C

3 papers

NM_203500.2

p.M161I

c.483G>A

2 papers

NM_203500.2

p.A159T

c.475G>A

1 paper

NM_203500.2

p.G158_A159delins

c.474_475delinsCT

7 papers

NM_203500.2

p.G158G

c.474T>C

2 papers

NM_203500.2

p.Y162C

c.485A>G