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.V514_H516insFs

c.1542_1548dup7

Surrounding Variants

1 paper

NM_203500.2

p.N517fs

c.1549_1550fs

1 paper

NM_203500.2

p.N517S

c.1550A>G

1 paper

NM_203500.2

p.C518fs

c.1552_1553fs

1 paper

NM_203500.2

p.C518insFs

c.1554dupT

1 paper

NM_203500.2

p.C518delFs

c.1553_1554delAC

1 paper

NM_203500.2

p.I519M

c.1557C>G

3 papers

NM_203500.2

p.I519fs

c.1555_1556fs

1 paper

NM_203500.2

p.V514I

c.1540G>A

1 paper

NM_203500.2

p.Y520C

c.1559A>G

1 paper

NM_203500.2

p.I519_Y520delFs

c.1557_1560del4

1 paper

NM_203500.2

p.V512F

c.1534G>T

1 paper

NM_203500.2

p.V512I

c.1534G>A