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.G1487R

c.4459G>C

Surrounding Variants

1 paper

NM_001271938.2

p.G1487R

c.4459G>A

1 paper

NM_001271938.2

p.G1486C

c.4456G>T

1 paper

NM_001271938.2

p.A1481Fs

c.4442delinsCCAFs

1 paper

NM_001271938.2

p.F1475L

c.4423T>C

1 paper

NM_001271938.2

p.A1440D

c.4319C>A

1 paper

NM_001271938.2

p.A1430V

c.4289C>T

1 paper

NM_001271938.2

p.G1527E

c.4580G>A

1 paper

NM_001271938.2

p.S1414Fs

c.4241delinsCCAFs

1 paper

NM_001271938.2

p.C1407Y

c.4220G>A

1 paper

NM_001271938.2

p.S1401L

c.4202C>T

1 paper

NM_001271938.2

p.R1541Splc

c.4623-36C>T

2 papers

NM_001410.3

p.R1499H

c.4496G>A