Varaico: Literature-Extracted Genetic Variants

ENC1

59 papers

RefSeq Summary

This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and...

Pfam Domains

BTBaa 36–144UCSCBTB/POZ domain

BACKaa 149–251UCSCBTB And C-terminal Kelch

Kelch_1aa 329–375UCSCKelch motif

Kelch_KLHDC2_KLHL20_DRC7aa 380–586UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

ectodermal-neural cortex 1

HGNC Previous Symbol

NRPB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003633.4

p.S156fs

c.466_467fs

Surrounding Variants

1 paper

NM_003633.4

p.S156S

c.468T>G

1 paper

NM_003633.4

p.S156insFs

c.466_467insGT

1 paper

NM_003633.4

p.T147I

c.440C>T

1 paper

NM_003633.4

p.T147N

c.440C>A

1 paper

NM_003633.4

p.Q177Q

c.531A>G

1 paper

NM_003633.4

p.A135insFs

c.404_405insC

1 paper

NM_003633.4

p.E122V

c.365A>T

1 paper

NM_003633.4

p.E115E

c.345A>G

1 paper

NM_003633.4

p.E207E

c.621A>G

2 papers

NM_003633.4

p.N216S

c.647A>G

2 papers

NM_003633.4

p.E96K

c.286G>A

1 paper

NM_003633.4

p.H94N

c.280C>A