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.S2446A

c.7336T>G

Surrounding Variants

1 paper

NM_001410.3

p.R2376C

c.7126C>T

2 papers

NM_001271938.2

p.T2456A

c.7366A>G

1 paper

NM_001271938.2

p.P2435L

c.7304C>T

1 paper

NM_001410.3

p.S2367G

c.7099A>G

1 paper

NM_001271938.2

p.G2433E

c.7298G>A

1 paper

NM_001410.3

p.Q2356_C2357Splc

c.7069-2A>G

5 papers

NM_001410.3

p.R2407H

c.7220G>A

NM_001271938.2

p.R2474H

c.7421G>A

1 paper

NM_001271938.2

p.V2521I

c.7561G>A

2 papers

NM_001271938.2

p.T2523A

c.7567A>G

1 paper

NM_001410.3

p.A2464T

c.7390G>A

1 paper

NM_001271938.2

p.G2553E

c.7658G>A

1 paper

NM_001271938.2

p.P2558L

c.7673C>T