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

17 papers

NM_203500.2

p.G364C

c.1090G>T

Surrounding Variants

1 paper

NM_203500.2

p.G364S

c.1090G>A

1 paper

NM_203500.2

p.G364V

c.1091G>T

1 paper

NM_203500.2

p.R362delFs

c.1086delC

14 papers

NM_203500.2

p.R362Q

c.1085G>A

1 paper

NM_203500.2

p.A366T

c.1096G>A

4 papers

NM_203500.2

p.R362W

c.1084C>T

4 papers

NM_203500.2

p.P361L

c.1082C>T

1 paper

NM_203500.2

p.G367D

c.1100G>A

1 paper

NM_203500.2

p.R362_A366delFs

c.1084_1097del14

1 paper

NM_203500.2

p.A366_G367del2

c.1096_1100del6

1 paper

NM_203500.2

p.C368F

c.1103G>T

3 papers

NM_203500.2

p.V369L

c.1105G>T