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

7 papers

NM_015047.3

p.S323T

c.968G>C

Surrounding Variants

1 paper

NM_015047.3

p.V322L

c.964G>T

1 paper

NM_015047.3

p.V322L

c.964G>C

1 paper

NM_015047.3

p.T331T

c.993G>T

1 paper

NM_015047.3

p.V342_Q343Splc

c.1027-17C>T

5 papers

NM_015047.3

p.S345T

c.1034G>C

3 papers

NM_015047.3

p.S346N

c.1037G>A

4 papers

NM_015047.3

p.S347N

c.1040G>A

1 paper

NM_015047.3

p.E349Q

c.1045G>C

1 paper

NM_015047.3

p.M353T

c.1058T>C

1 paper

NM_015047.3

p.T309M

c.926C>T

1 paper

NM_015047.3

p.G308V

c.923G>T

1 paper

NM_015047.3

p.H306Q

c.918T>G