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

7 papers

NM_203500.2

p.D236N

c.706G>A

Surrounding Variants

3 papers

NM_203500.2

p.D236Y

c.706G>T

17 papers

NM_203500.2

p.D236H

c.706G>C

3 papers

NM_203500.2

p.D236V

c.707A>T

1 paper

NM_203500.2

p.D235A

c.704A>C

2 papers

NM_203500.2

p.D235Y

c.703G>T

2 papers

NM_203500.2

p.D235H

c.703G>C

2 papers

NM_203500.2

p.L237V

c.709C>G

1 paper

NM_203500.2

p.L237_N238insT

c.709_713ins3

1 paper

NM_203500.2

p.L237Q

c.710T>A

3 papers

NM_203500.2

p.R234P

c.701G>C

1 paper

NM_203500.2

p.R234Q

c.701G>A

12 papers

NM_203500.2

p.R234W

c.700C>T