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.L355fs

c.1063_1064fs

Surrounding Variants

1 paper

NM_203500.2

p.L355L

c.1063T>C

1 paper

NM_203500.2

p.L355*

c.1064T>A

1 paper

NM_203500.2

p.R354R

c.1062G>C

2 papers

NM_203500.2

p.R354L

c.1061G>T

1 paper

NM_203500.2

p.L355L

c.1065G>A

1 paper

NM_203500.2

p.R354Q

c.1061G>A

1 paper

NM_203500.2

p.L355delFs

c.1064delA

1 paper

NM_203500.2

p.A356T

c.1066G>A

1 paper

NM_203500.2

p.R354W

c.1060C>T

1 paper

NM_203500.2

p.A356V

c.1067C>T

1 paper

NM_203500.2

p.A356fs

c.1066_1067fs

1 paper

NM_203500.2

p.D357N

c.1069G>A