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_001410.3

p.S2590del1

c.7768_7769delTCC

Surrounding Variants

1 paper

NM_001410.3

p.F2589_S2590del1

c.7766_7768delTCT

1 paper

NM_001410.3

p.V2587_S2590del0

c.7759_7770del12

1 paper

NM_001271938.2

p.F2649S

c.7946T>C

1 paper

NM_001410.3

p.S2597_L2598delFs

c.7791_7794del4

1 paper

NM_001410.3

p.L2598fs

c.7792_7793fs

1 paper

NM_001271938.2

p.L2637insFs

c.7911dupC

1 paper

NM_001271938.2

p.L2676L

c.8026C>T

1 paper

NM_001271938.2

p.A2627A

c.7881C>T

1 paper

NM_001271938.2

p.G2620E

c.7859G>A

1 paper

NM_001271938.2

p.V2619M

c.7855G>A

1 paper

NM_001271938.2

p.R2611C

c.7831C>T

1 paper

NM_001271938.2

p.S2610R

c.7830C>G