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.V792_Y793Splc

c.2376+6C>T

Surrounding Variants

2 papers

NM_015047.3

p.V792fs

c.2374_2375fs

2 papers

NM_015047.3

p.V792V

c.2376G>A

1 paper

NM_001271429.2

p.I762V

c.2284A>G

1 paper

NM_015047.3

p.K777E

c.2329A>G

1 paper

NM_015047.3

p.G767delFs

c.2299delC

1 paper

NM_015047.3

p.I762F

c.2284A>T

1 paper

NM_015047.3

p.I762V

c.2284A>G

1 paper

NM_015047.3

p.T755I

c.2264C>T

1 paper

NM_015047.3

p.T755A

c.2263A>G

1 paper

NM_015047.3

p.S747R

c.2241C>A

1 paper

NM_015047.3

p.N739delFs

c.2216delT

1 paper

NM_015047.3

p.P738A

c.2212C>G