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.W968R

c.2902T>C

Surrounding Variants

1 paper

NM_001271938.2

p.W968R

c.2902T>A

1 paper

NM_001271938.2

p.Q952Splc

c.2856-5C>A

1 paper

NM_001271938.2

p.P947L

c.2840C>T

1 paper

NM_001271938.2

p.S999L

c.2996C>T

1 paper

NM_001271938.2

p.E1000E

c.3000G>A

1 paper

NM_001271938.2

p.R1002W

c.3004C>T

1 paper

NM_001271938.2

p.R1004W

c.3010C>T

1 paper

NM_001271938.2

p.F1009F

c.3027C>T

2 papers

NM_001271938.2

p.A928T

c.2782G>A

2 papers

NM_001271938.2

p.R924H

c.2771G>A

1 paper

NM_001271938.2

p.C1024G

c.3070T>G

1 paper

NM_001271938.2

p.Q1037*

c.3109C>T