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.L136P

c.407T>C

Surrounding Variants

1 paper

NM_203500.2

p.L136F

c.406C>T

2 papers

NM_203500.2

p.R135delFs

c.403_404delCG

1 paper

NM_203500.2

p.I137fs

c.409_410fs

1 paper

NM_203500.2

p.I137T

c.410T>C

2 papers

NM_203500.2

p.R135L

c.404G>T

4 papers

NM_203500.2

p.R135H

c.404G>A

6 papers

NM_203500.2

p.R135C

c.403C>T

1 paper

NM_203500.2

p.E138K

c.412G>A

1 paper

NM_203500.2

p.E134*

c.400G>T

1 paper

NM_203500.2

p.E134K

c.400G>A

3 papers

NM_203500.2

p.F139L

c.415T>C

1 paper

NM_203500.2

p.M133I

c.399G>T