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

1–12 of 198 variants

12 papers

NM_015047.3

p.T82M

c.245C>T

8 papers

NM_015047.3

p.A144T

c.430G>A

7 papers

NM_015047.3

p.D96Splc

c.287-1G>A

7 papers

NM_015047.3

p.S323T

c.968G>C

7 papers

NM_015047.3

p.G868R

c.2602G>C

7 papers

NM_015047.3

p.G868R

c.2602G>A

6 papers

NM_015047.3

p.R404_L405Splc

c.1212+1G>A

6 papers

NM_015047.3

p.G471R

c.1411G>C

6 papers

NM_015047.3

p.G471R

c.1411G>A

5 papers

NM_015047.3

p.S345T

c.1034G>C

5 papers

NM_015047.3

p.R881C

c.2641C>T

5 papers

NM_015047.3

p.F953S

c.2858T>C