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

1–12 of 176 variants

13 papers

NM_001256545.2

p.C774R

c.2320T>C

11 papers

NM_001256545.2

p.C326R

c.976T>C

6 papers

NM_001256545.2

p.R71W

c.211C>T

6 papers

NM_001256545.2

p.Y1048*

c.3144T>A

6 papers

NM_001256545.2

p.Y1048*

c.3144T>G

5 papers

NM_001256545.2

p.C118R

c.352T>C

5 papers

NM_001256545.2

p.W520*

c.1559G>A

5 papers

NM_001256545.2

p.W520*

c.1560G>A

5 papers

NM_001256545.2

p.C767*

c.2301C>A

4 papers

NM_001256545.2

p.G476Splc

c.1426+1G>T

4 papers

NM_001256545.2

p.C611W

c.1833T>G

4 papers

NM_001256545.2

p.N763_D766insFs

c.2288_2297dup10