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.W215*

c.644G>A

Surrounding Variants

1 paper

NM_001271938.2

p.W215*

c.645G>A

1 paper

NM_001271938.2

p.D222N

c.664G>A

1 paper

NM_001271938.2

p.L204Q

c.611T>A

1 paper

NM_001271938.2

p.A227S

c.679G>T

1 paper

NM_001271938.2

p.A201T

c.601G>A

1 paper

NM_001271938.2

p.G199E

c.596G>A

3 papers

NM_001271938.2

p.G199R

c.595G>A

3 papers

NM_001271938.2

p.G199R

c.595G>C

1 paper

NM_001271938.2

p.P195L

c.584C>T

8 papers

NM_001271938.2

p.C193R

c.577T>C

1 paper

NM_001271938.2

p.R192L

c.575G>T

1 paper

NM_001271938.2

p.P238P

c.714A>T