Varaico: Literature-Extracted Genetic Variants

MEGF10

152 papers

RefSeq Summary

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediato...

Pfam Domains

EGF_PEAR1Laa 101–149UCSCPlatelet endothelial aggregation receptor 1-like, EGF domain

EGF_lamininaa 152–197UCSCLaminin EGF domain

hEGFaa 197–216UCSCHuman growth factor-like EGF

hEGFaa 240–259UCSCHuman growth factor-like EGF

EGF_2aa 277–307UCSCEGF-like domain

EGF_lamininaa 367–415UCSCLaminin EGF domain

Gene Aliases

HGNC Name

multiple EGF like domains 10

HGNC Alias Symbols

KIAA1780; SR-F3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_001256545.2

p.Y1048*

c.3144T>A

Surrounding Variants

6 papers

NM_001256545.2

p.Y1048*

c.3144T>G

2 papers

NM_001256545.2

p.E1045fs

c.3133_3134fs

3 papers

NM_001256545.2

p.S1044insFs

c.3132dupA

1 paper

NM_001256545.2

p.S1044fs

c.3130_3131fs

1 paper

NM_001256545.2

p.Y1061F

c.3182A>T

1 paper

NM_001256545.2

p.E1063D

c.3189G>C

1 paper

NM_001256545.2

p.E1063D

c.3189G>T

2 papers

NM_001256545.2

p.Y1030C

c.3089A>G

2 papers

NM_001256545.2

p.Y1030F

c.3089A>T

2 papers

NM_001256545.2

p.Y1030D

c.3088T>G

1 paper

NM_001256545.2

p.T1068A

c.3202A>G

1 paper

NM_001256545.2

p.E1078Splc

c.3232+1G>A