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

13 papers

NM_001256545.2

p.C774R

c.2320T>C

Surrounding Variants

1 paper

NM_001256545.2

p.R777H

c.2330G>A

5 papers

NM_001256545.2

p.C767*

c.2301C>A

1 paper

NM_001256545.2

p.D766insFs

c.2297dupA

1 paper

NM_001256545.2

p.D766fs

c.2296_2297fs

1 paper

NM_001256545.2

p.N763S

c.2288A>G

4 papers

NM_001256545.2

p.N763_D766insFs

c.2288_2297dup10

2 papers

NM_001256545.2

p.K788Splc

c.2362+1G>A

1 paper

NM_001256545.2

p.K788Splc

c.2362+1G>T

1 paper

NM_001256545.2

p.R745Splc

c.2233+758C>T

1 paper

NM_001256545.2

p.Y794*

c.2382T>A

1 paper

NM_001256545.2

p.Y794*

c.2382T>G

1 paper

NM_001256545.2

p.I801_C802delFs

c.2403_2404delAT