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.R1193*

c.3577C>T

Surrounding Variants

1 paper

NM_001271938.2

p.N1201_A1202del2

c.3601_3605del6

2 papers

NM_001271938.2

p.R1209W

c.3625C>T

1 paper

NM_001271938.2

p.R1220C

c.3658C>T

1 paper

NM_001271938.2

p.G1222S

c.3664G>A

1 paper

NM_001271938.2

p.D1225N

c.3673G>A

1 paper

NM_001271938.2

p.A1240T

c.3718G>A

1 paper

NM_001271938.2

p.Y1250C

c.3749A>G

1 paper

NM_001271938.2

p.A1255insFs

c.3765dupC

1 paper

NM_001271938.2

p.R1281W

c.3841C>T

1 paper

NM_001271938.2

p.G1289S

c.3865G>A

1 paper

NM_001271938.2

p.H1170R

c.3509A>G

1 paper

NM_001410.3

p.G1229R

c.3685G>A