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

12 papers

NM_015047.3

p.T82M

c.245C>T

Surrounding Variants

1 paper

NM_015047.3

p.T82A

c.244A>G

1 paper

NM_015047.3

p.E84V

c.251A>T

1 paper

NM_015047.3

p.R76H

c.227G>A

1 paper

NM_015047.3

p.D88G

c.263A>G

2 papers

NM_015047.3

p.L74Splc

c.221-1G>T

2 papers

NM_015047.3

p.L74Splc

c.221-2A>G

1 paper

NM_015047.3

p.H93D

c.277C>G

1 paper

NM_015047.3

p.D96Splc

c.286+92G>A

1 paper

NM_015047.3

p.L74Splc

c.221-151G>A

7 papers

NM_015047.3

p.D96Splc

c.287-1G>A

3 papers

NM_015047.3

p.D96fs

c.286_287fs

1 paper

NM_015047.3

p.I98I

c.294C>T