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.G787V

c.2360G>T

Surrounding Variants

1 paper

NM_001410.3

p.R723C

c.2167C>T

1 paper

NM_001271938.2

p.R790H

c.2369G>A

1 paper

NM_001271938.2

p.R782Q

c.2345G>A

1 paper

NM_001271938.2

p.R782W

c.2344C>T

1 paper

NM_001271938.2

p.R781W

c.2341C>T

1 paper

NM_001271938.2

p.H817R

c.2450A>G

1 paper

NM_001271938.2

p.P830T

c.2488C>A

1 paper

NM_001410.3

p.S766_E767Splc

c.2298+1G>A

1 paper

NM_001271938.2

p.C854F

c.2561G>T

1 paper

NM_001271938.2

p.C857_D860Fs

c.2571_2578delinsCFs

1 paper

NM_001271938.2

p.C872C

c.2616C>T

1 paper

NM_001271938.2

p.G878R

c.2632G>A