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

4 papers

NM_005928.4

p.Q290_V291Splc

c.871-803A>G

Surrounding Variants

1 paper

NM_005928.4

p.Q290_V291Splc

c.871-937A>G

1 paper

NM_005928.4

p.Q290_V291Splc

c.871-2A>C

1 paper

NM_005928.4

p.L293M

c.877C>A

1 paper

NM_005928.4

p.G294D

c.881G>A

1 paper

NM_005928.4

p.K297T

c.890A>C

1 paper

NM_005928.4

p.E298D

c.894G>T

1 paper

NM_005928.4

p.E298D

c.894G>C

1 paper

NM_005928.4

p.A307fs

c.919_920fs

1 paper

NM_005928.4

p.V316M

c.946G>A

1 paper

NM_005928.4

p.A280V

c.839C>T

1 paper

NM_005928.4

p.N274S

c.821A>G

1 paper

NM_005928.4

p.P264L

c.791C>T