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

Selected Variant

1 paper

NM_015507.4

p.C236C

c.708C>T

Surrounding Variants

1 paper

NM_015507.4

p.S231I

c.692G>T

3 papers

NM_015507.4

p.G213E

c.638G>A

1 paper

NM_015507.4

p.R189Q

c.566G>A

1 paper

NM_015507.4

p.R189*

c.565C>T

1 paper

NM_015507.4

p.G169G

c.507A>T

1 paper

NM_015507.4

p.N134S

c.401A>G

1 paper

NM_015507.4

p.N134Y

c.400A>T

1 paper

NM_015507.4

p.A130D

c.389C>A

1 paper

NM_015507.4

p.P309R

c.926C>G

1 paper

NM_015507.4

p.G326R

c.976G>A

1 paper

NM_015507.4

p.G326R

c.976G>C