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

2 papers

NM_001256545.2

p.W520fs

c.1558_1559fs

Surrounding Variants

5 papers

NM_001256545.2

p.W520*

c.1559G>A

5 papers

NM_001256545.2

p.W520*

c.1560G>A

3 papers

NM_001256545.2

p.G519delFs

c.1557delA

1 paper

NM_001256545.2

p.R521C

c.1561C>T

1 paper

NM_001256545.2

p.R521P

c.1562G>C

3 papers

NM_001256545.2

p.G522R

c.1564G>A

3 papers

NM_001256545.2

p.G522R

c.1564G>C

1 paper

NM_001256545.2

p.G505E

c.1514G>A

1 paper

NM_001256545.2

p.N503N

c.1509C>T

1 paper

NM_001256545.2

p.Q530_D531Splc

c.1590+81T>A

4 papers

NM_001256545.2

p.G476Splc

c.1426+1G>T

1 paper

NM_001256545.2

p.C473F

c.1418G>T