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.D961A

c.2882A>C

Surrounding Variants

1 paper

NM_015047.3

p.V963M

c.2887G>A

5 papers

NM_015047.3

p.F953S

c.2858T>C

1 paper

NM_015047.3

p.T976I

c.2927C>T

1 paper

NM_015047.3

p.R990W

c.2968C>T

1 paper

NM_015047.3

p.S927L

c.2780C>T

2 papers

NM_015047.3

p.R920*

c.2758C>T

1 paper

NM_015047.3

p.A906T

c.2716G>A

1 paper

NM_015047.3

p.H905fs

c.2713_2714fs

1 paper

NM_015047.3

p.I904insFs

c.2712dupA

1 paper

NM_015047.3

p.I904insFs

c.2711_2712insA

1 paper

NM_015047.3

p.E884K

c.2650G>A

1 paper

NM_015047.3

p.R882insFs

c.2645_2646insA