Varaico: Literature-Extracted Genetic Variants

MEGF8

174 papers

RefSeq Summary

The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause o...

Pfam Domains

CUBaa 30–137UCSCCUB domain

Beta-prop_ATRN-LZTR1aa 242–541UCSCAttractin/LZTR1 beta-propeller

PSIaa 949–1004UCSCPlexin repeat

EGF_3aa 1078–1114UCSCEGF domain

Gene Aliases

HGNC Name

multiple EGF like domains 8

HGNC Previous Symbols

EGFL4; C19orf49

Papers

RefSeq ID

Protein change

DNA change

1–12 of 296 variants

8 papers

NM_001271938.2

p.C193R

c.577T>C

4 papers

NM_001271938.2

p.R2474H

c.7421G>A

3 papers

NM_001271938.2

p.G199R

c.595G>A

3 papers

NM_001271938.2

p.G199R

c.595G>C

3 papers

NM_001271938.2

p.R448*

c.1342C>T

3 papers

NM_001271938.2

p.V2569I

c.7705G>A

2 papers

NM_001271938.2

p.R353C

c.1057C>T

2 papers

NM_001271938.2

p.A714T

c.2140G>A

2 papers

NM_001271938.2

p.R924H

c.2771G>A

2 papers

NM_001271938.2

p.A928T

c.2782G>A

2 papers

NM_001271938.2

p.R1209W

c.3625C>T

2 papers

NM_001410.3

p.R1499H

c.4496G>A