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.S504S

c.1512T>C

Surrounding Variants

1 paper

NM_003633.4

p.S507S

c.1521T>C

1 paper

NM_003633.4

p.G498W

c.1492G>T

1 paper

NM_003633.4

p.Y516*

c.1548C>A

1 paper

NM_003633.4

p.A486T

c.1456G>A

1 paper

NM_003633.4

p.A526T

c.1576G>A

1 paper

NM_003633.4

p.R528H

c.1583G>A

2 papers

NM_003633.4

p.C531R

c.1591T>C

1 paper

NM_003633.4

p.A535V

c.1604C>T

1 paper

NM_003633.4

p.G537V

c.1610G>T

1 paper

NM_003633.4

p.D466_Q467insGT

c.1396_1400ins6

2 papers

NM_003633.4

p.Q463R

c.1388A>G

1 paper

NM_003633.4

p.I549T

c.1646T>C