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.Y70C

c.209A>G

Surrounding Variants

1 paper

NM_003633.4

p.R69H

c.206G>A

1 paper

NM_003633.4

p.R69C

c.205C>T

1 paper

NM_003633.4

p.G77C

c.229G>T

1 paper

NM_003633.4

p.K80I

c.239A>T

1 paper

NM_003633.4

p.S82I

c.245G>T

1 paper

NM_003633.4

p.S85N

c.254G>A

1 paper

NM_003633.4

p.D90Y

c.268G>T

2 papers

NM_003633.4

p.V48I

c.142G>A

1 paper

NM_003633.4

p.H94N

c.280C>A

2 papers

NM_003633.4

p.E96K

c.286G>A

3 papers

NM_003633.4

p.L38P

c.113T>C

1 paper

NM_003633.4

p.L38F

c.112C>T