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

1–12 of 71 variants

9 papers

NM_005928.4

p.L76M

c.226C>A

6 papers

NM_005928.4

p.R3S

c.7C>A

4 papers

NM_005928.4

p.I26V

c.76A>G

4 papers

NM_005928.4

p.Q290_V291Splc

c.871-803A>G

3 papers

NM_005928.4

p.R148H

c.443G>A

3 papers

NM_005928.4

p.D170N

c.508G>A

2 papers

NM_005928.4

p.M1T

c.2T>C

2 papers

NM_005928.4

p.K69Splc

c.205+1G>A

2 papers

NM_005928.4

p.E72K

c.214G>A

2 papers

NM_005928.4

p.E72D

c.216G>T

2 papers

NM_005928.4

p.E72D

c.216G>C

2 papers

NM_005928.4

p.S89S

c.267G>A