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.P327T

c.979C>A

Surrounding Variants

1 paper

NM_003633.4

p.F333L

c.997T>C

1 paper

NM_003633.4

p.F333L

c.999T>G

1 paper

NM_003633.4

p.F333L

c.999T>A

1 paper

NM_003633.4

p.A337V

c.1010C>T

1 paper

NM_003633.4

p.I344S

c.1031T>G

1 paper

NM_003633.4

p.G347R

c.1039G>C

1 paper

NM_003633.4

p.G347R

c.1039G>A

1 paper

NM_003633.4

p.L300V

c.898C>G

3 papers

NM_003633.4

p.H295R

c.884A>G

1 paper

NM_003633.4

p.T363N

c.1088C>A

1 paper

NM_003633.4

p.P290H

c.869C>A

1 paper

NM_003633.4

p.K370*

c.1108A>T