Varaico: Literature-Extracted Genetic Variants

MFGE8

114 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocyt...

Pfam Domains

EGFaa 19–57UCSCEGF-like domain

F5_F8_type_Caa 77–214UCSCF5/8 type C domain

F5_F8_type_Caa 237–376UCSCF5/8 type C domain

Gene Aliases

HGNC Name

milk fat globule EGF and factor V/VIII domain containing

HGNC Previous Symbol

SPAG10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005928.4

p.V45V

c.135G>A

Surrounding Variants

1 paper

NM_005928.4

p.G47E

c.140G>A

1 paper

NM_005928.4

p.S52ins2

c.154_155ins6

1 paper

NM_005928.4

p.Y53C

c.158A>G

1 paper

NM_005928.4

p.G36S

c.106G>A

1 paper

NM_005928.4

p.T56M

c.167C>T

1 paper

NM_005928.4

p.N34N

c.102C>T

1 paper

NM_005928.4

p.G60A

c.179G>C

1 paper

NM_005928.4

p.K29insFs

c.85_86insG

1 paper

NM_005928.4

p.N64Y

c.190A>T

4 papers

NM_005928.4

p.I26V

c.76A>G

1 paper

NM_005928.4

p.T68_K69insFs

c.204_205insC

1 paper

NM_005928.4

p.T68delFs

c.203delG