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.I328V

c.982A>G

Surrounding Variants

1 paper

NM_203500.2

p.I328F

c.982A>T

1 paper

NM_203500.2

p.M317_L327delins

c.951_979delinsTTTTTTTTTTTAGGATAAGGTGTGCAGCG

1 paper

NM_203500.2

p.Y329C

c.986A>G

1 paper

NM_203500.2

p.R326H

c.977G>A

1 paper

NM_203500.2

p.T330I

c.989C>T

1 paper

NM_203500.2

p.T330T

c.990C>T

1 paper

NM_203500.2

p.I328_T330insFs

c.982_989dup8

1 paper

NM_203500.2

p.G325C

c.973G>T

1 paper

NM_203500.2

p.A331V

c.992C>T

1 paper

NM_203500.2

p.V324G

c.971T>G

1 paper

NM_203500.2

p.A331fs

c.991_992fs

11 papers

NM_203500.2

p.G332C

c.994G>T