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

2 papers

NM_001271938.2

p.K1758E

c.5272A>G

Surrounding Variants

1 paper

NM_001271938.2

p.Q1746H

c.5238G>C

1 paper

NM_001271938.2

p.Q1746H

c.5238G>T

1 paper

NM_001271938.2

p.I1775T

c.5324T>C

1 paper

NM_001271938.2

p.R1728H

c.5183G>A

2 papers

NM_001271938.2

p.R1785W

c.5353C>T

2 papers

NM_001271938.2

p.G1794W

c.5380G>T

1 paper

NM_001271938.2

p.S1811N

c.5432G>A

1 paper

NM_001271938.2

p.T1714insFs

c.5140_5141insTG

1 paper

NM_001271938.2

p.R1713R

c.5139C>T

1 paper

NM_001271938.2

p.L1705P

c.5114T>C

1 paper

NM_001271938.2

p.P1701L

c.5102C>T

1 paper

NM_001271938.2

p.A1700A

c.5100C>T