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.G332S

c.994G>A

Surrounding Variants

11 papers

NM_203500.2

p.G332C

c.994G>T

1 paper

NM_203500.2

p.G332V

c.995G>T

1 paper

NM_203500.2

p.A331fs

c.991_992fs

1 paper

NM_203500.2

p.A331V

c.992C>T

1 paper

NM_203500.2

p.G332fs

c.994_995fs

56 papers

NM_203500.2

p.G333C

c.997G>T

13 papers

NM_203500.2

p.G333S

c.997G>A

1 paper

NM_203500.2

p.G332delFs

c.996delG

2 papers

NM_203500.2

p.G333V

c.998G>T

3 papers

NM_203500.2

p.G333D

c.998G>A

1 paper

NM_203500.2

p.T330T

c.990C>T

1 paper

NM_203500.2

p.I328_T330insFs

c.982_989dup8