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

1 paper

NM_015047.3

p.E381*

c.1141G>T

Surrounding Variants

2 papers

NM_015047.3

p.Y378*

c.1134C>G

3 papers

NM_015047.3

p.Y378*

c.1134C>A

1 paper

NM_015047.3

p.T390M

c.1169C>T

1 paper

NM_015047.3

p.E396Q

c.1186G>C

1 paper

NM_015047.3

p.R401W

c.1201C>T

1 paper

NM_015047.3

p.R401Q

c.1202G>A

2 papers

NM_015047.3

p.R404fs

c.1210_1211fs

1 paper

NM_015047.3

p.R404W

c.1210C>T

1 paper

NM_015047.3

p.R404Q

c.1211G>A

6 papers

NM_015047.3

p.R404_L405Splc

c.1212+1G>A

1 paper

NM_015047.3

p.M353T

c.1058T>C

1 paper

NM_015047.3

p.E349Q

c.1045G>C