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.R401delFs

c.1201_1202delCG

Surrounding Variants

1 paper

NM_001271938.2

p.A388T

c.1162G>A

1 paper

NM_001271938.2

p.G383D

c.1148G>A

1 paper

NM_001271938.2

p.G373R

c.1117G>A

1 paper

NM_001271938.2

p.G373R

c.1117G>C

1 paper

NM_001271938.2

p.T371I

c.1112C>T

1 paper

NM_001271938.2

p.R365C

c.1093C>T

1 paper

NM_001271938.2

p.G362_L363insG

c.1084_1088ins3

2 papers

NM_001271938.2

p.R353C

c.1057C>T

1 paper

NM_001271938.2

p.G352S

c.1054G>A

1 paper

NM_001271938.2

p.A338T

c.1012G>A

1 paper

NM_001271938.2

p.P331L

c.992C>T

1 paper

NM_001271938.2

p.S329_D343delFs

c.985_1027del43