Varaico: Literature-Extracted Genetic Variants

EGFL6

32 papers

RefSeq Summary

This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regu...

Pfam Domains

EGF_PEAR1Laa 57–106UCSCPlatelet endothelial aggregation receptor 1-like, EGF domain

EGF_CAaa 174–217UCSCCalcium-binding EGF domain

EGF_CAaa 219–258UCSCCalcium-binding EGF domain

MAMaa 402–545UCSCMAM domain, meprin/A5/mu

Gene Aliases

HGNC Name

EGF like domain multiple 6

HGNC Previous Symbol

MAEG

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

3 papers

NM_015507.4

p.G213E

c.638G>A

2 papers

NM_015507.4

p.L508F

c.1524G>C

2 papers

NM_015507.4

p.L508F

c.1524G>T

1 paper

NM_015507.4

p.M1delFs

c.1_2delAT

1 paper

NM_015507.4

p.M1_P2del2

c.1_5del6

1 paper

NM_015507.4

p.L3V

c.7C>G

1 paper

NM_015507.4

p.R54G

c.160A>G

1 paper

NM_015507.4

p.E66V

c.197A>T

1 paper

NM_015507.4

p.P67L

c.200C>T

1 paper

NM_015507.4

p.R81I

c.242G>T

1 paper

NM_015507.4

p.S92T

c.275G>C

1 paper

NM_015507.4

p.A130D

c.389C>A