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.R2593Q

c.7778G>A

Surrounding Variants

1 paper

NM_001271938.2

p.R2595R

c.7785G>A

1 paper

NM_001271938.2

p.L2596M

c.7786C>A

1 paper

NM_001271938.2

p.R2590_G2591del1

c.7769_7771delGCG

1 paper

NM_001271938.2

p.V2597_I2598delFs

c.7791_7794del4

2 papers

NM_001271938.2

p.V2589_R2590del1

c.7766_7768delTCC

1 paper

NM_001271938.2

p.L2587_R2590del0

c.7759_7770del12

1 paper

NM_001271938.2

p.T2579M

c.7736C>T

1 paper

NM_001271938.2

p.S2610R

c.7830C>G

1 paper

NM_001271938.2

p.R2611C

c.7831C>T

1 paper

NM_001271938.2

p.V2569A

c.7706T>C

4 papers

NM_001410.3

p.V2502I

c.7504G>A

NM_001271938.2

p.V2569I

c.7705G>A

1 paper

NM_001271938.2

p.V2619M

c.7855G>A