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

1–12 of 88 variants

3 papers

NM_003633.4

p.L38P

c.113T>C

3 papers

NM_003633.4

p.H295R

c.884A>G

2 papers

NM_003633.4

p.V48I

c.142G>A

2 papers

NM_003633.4

p.E96K

c.286G>A

2 papers

NM_003633.4

p.N216S

c.647A>G

2 papers

NM_003633.4

p.A398V

c.1193C>T

2 papers

NM_003633.4

p.Q463R

c.1388A>G

2 papers

NM_003633.4

p.C531R

c.1591T>C

1 paper

NM_003633.4

p.H6_E7insFs

c.18_19insA

1 paper

NM_003633.4

p.R12K

c.35G>A

1 paper

NM_003633.4

p.F23I

c.67T>A

1 paper

NM_003633.4

p.H24L

c.71A>T