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

13 papers

NM_203500.2

p.L471L

c.1413C>G

Surrounding Variants

1 paper

NM_203500.2

p.R470_L471delins

c.1409_1413delinsATCTG

1 paper

NM_203500.2

p.L472P

c.1415T>C

1 paper

NM_203500.2

p.L471F

c.1411C>T

1 paper

NM_203500.2

p.L472del1

c.1414_1415delAAG

3 papers

NM_203500.2

p.R470L

c.1409G>T

13 papers

NM_203500.2

p.R470H

c.1409G>A

48 papers

NM_203500.2

p.R470C

c.1408C>T

13 papers

NM_203500.2

p.R470S

c.1408C>A

1 paper

NM_203500.2

p.Y473F

c.1418A>T

1 paper

NM_203500.2

p.N469fs

c.1405_1406fs

1 paper

NM_203500.2

p.N469S

c.1406A>G

1 paper

NM_203500.2

p.N469fs

c.1405_1406fs