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.P404_A405insC

c.1210_1214ins3

Surrounding Variants

1 paper

NM_003633.4

p.L403F

c.1207C>T

2 papers

NM_003633.4

p.A398V

c.1193C>T

1 paper

NM_003633.4

p.W424C

c.1272G>T

1 paper

NM_003633.4

p.H381L

c.1142A>T

1 paper

NM_003633.4

p.H381P

c.1142A>C

1 paper

NM_003633.4

p.H381N

c.1141C>A

1 paper

NM_003633.4

p.G380fs

c.1138_1139fs

1 paper

NM_003633.4

p.F379insFs

c.1137dupT

1 paper

NM_003633.4

p.V376V

c.1128G>T

1 paper

NM_003633.4

p.V434I

c.1300G>A

1 paper

NM_003633.4

p.V434V

c.1302T>C

1 paper

NM_003633.4

p.A371A

c.1113T>C