Varaico: Literature-Extracted Genetic Variants

EMC1

143 papers

RefSeq Summary

This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encodin...

Pfam Domains

Beta-prop_EMC1_Naa 21–447UCSCEMC1 N-terminal beta-propeller domain

EMC1_Caa 531–950UCSCER membrane protein complex subunit 1, second beta-propeller

Gene Aliases

HGNC Name

ER membrane protein complex subunit 1

HGNC Previous Symbol

KIAA0090

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_015047.3

p.G471R

c.1411G>A

Surrounding Variants

6 papers

NM_015047.3

p.G471R

c.1411G>C

1 paper

NM_015047.3

p.F473Y

c.1418T>A

1 paper

NM_015047.3

p.K476fs

c.1426_1427fs

1 paper

NM_015047.3

p.Q466*

c.1396C>T

1 paper

NM_015047.3

p.K476delFs

c.1427delT

1 paper

NM_015047.3

p.L460L

c.1380C>A

1 paper

NM_015047.3

p.W443S

c.1328G>C

1 paper

NM_015047.3

p.A437Splc

c.1310-16A>G

1 paper

NM_015047.3

p.D478Splc

c.1433-2A>G

1 paper

NM_015047.3

p.G482R

c.1444G>C

1 paper

NM_015047.3

p.G482R

c.1444G>A

1 paper

NM_015047.3

p.R420Q

c.1259G>A