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

Selected Variant

1 paper

NM_001271938.2

p.E473D

c.1419G>C

Surrounding Variants

1 paper

NM_001271938.2

p.G465C

c.1393G>T

1 paper

NM_001271938.2

p.F483S

c.1448T>C

1 paper

NM_001271938.2

p.W491C

c.1473G>C

1 paper

NM_001271938.2

p.W491C

c.1473G>T

1 paper

NM_001271938.2

p.E496Q

c.1486G>C

1 paper

NM_001271938.2

p.E504delFs

c.1512delG

3 papers

NM_001271938.2

p.R448*

c.1342C>T

1 paper

NM_001271938.2

p.R439W

c.1315C>T

1 paper

NM_001271938.2

p.V428M

c.1282G>A

1 paper

NM_001271938.2

p.V420M

c.1258G>A

1 paper

NM_001271938.2

p.R419*

c.1255C>T

1 paper

NM_001271938.2

p.R401delFs

c.1201_1202delCG