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.S383L

c.1148C>T

Surrounding Variants

1 paper

NM_203500.2

p.P384L

c.1151C>T

3 papers

NM_203500.2

p.P384P

c.1152C>T

2 papers

NM_203500.2

p.R380S

c.1140G>T

2 papers

NM_203500.2

p.R380S

c.1140G>C

1 paper

NM_203500.2

p.G386R

c.1156G>C

1 paper

NM_203500.2

p.G386S

c.1156G>A

1 paper

NM_203500.2

p.R380T

c.1139G>C

1 paper

NM_203500.2

p.G386fs

c.1156_1157fs

3 papers

NM_203500.2

p.G379V

c.1136G>T

7 papers

NM_203500.2

p.G379D

c.1136G>A

2 papers

NM_203500.2

p.G379C

c.1135G>T

1 paper

NM_203500.2

p.N387N

c.1161C>T