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

2 papers

NM_003633.4

p.Q463R

c.1388A>G

Surrounding Variants

1 paper

NM_003633.4

p.D466_Q467insGT

c.1396_1400ins6

1 paper

NM_003633.4

p.L459F

c.1375C>T

1 paper

NM_003633.4

p.S455N

c.1364G>A

1 paper

NM_003633.4

p.A486T

c.1456G>A

1 paper

NM_003633.4

p.A438T

c.1312G>A

1 paper

NM_003633.4

p.N436T

c.1307A>C

1 paper

NM_003633.4

p.V434V

c.1302T>C

1 paper

NM_003633.4

p.V434I

c.1300G>A

1 paper

NM_003633.4

p.G498W

c.1492G>T

1 paper

NM_003633.4

p.W424C

c.1272G>T

1 paper

NM_003633.4

p.S504S

c.1512T>C

1 paper

NM_003633.4

p.S507S

c.1521T>C