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.P880S

c.2638C>T

Surrounding Variants

5 papers

NM_015047.3

p.R881C

c.2641C>T

1 paper

NM_015047.3

p.R882C

c.2644C>T

1 paper

NM_015047.3

p.R882insFs

c.2645_2646insA

2 papers

NM_015047.3

p.R882H

c.2645G>A

1 paper

NM_015047.3

p.E884K

c.2650G>A

2 papers

NM_015047.3

p.L873_P874delFs

c.2619_2622del4

4 papers

NM_015047.3

p.P874fs

c.2620_2621fs

7 papers

NM_015047.3

p.G868R

c.2602G>C

7 papers

NM_015047.3

p.G868R

c.2602G>A

1 paper

NM_015047.3

p.I863fs

c.2587_2588fs

2 papers

NM_015047.3

p.I863Splc

c.2588-771C>G

1 paper

NM_015047.3

p.I904insFs

c.2711_2712insA