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

3 papers

NM_005928.4

p.D170N

c.508G>A

Surrounding Variants

1 paper

NM_005928.4

p.E168K

c.502G>A

1 paper

NM_005928.4

p.F158V

c.472T>G

3 papers

NM_005928.4

p.R148H

c.443G>A

1 paper

NM_005928.4

p.R134L

c.401G>T

2 papers

NM_005928.4

p.L132L

c.394C>T

1 paper

NM_005928.4

p.Q129H

c.387G>T

1 paper

NM_005928.4

p.Q129H

c.387G>C

1 paper

NM_005928.4

p.N115delFs

c.344_345delAT

1 paper

NM_005928.4

p.V114V

c.342C>G

2 papers

NM_005928.4

p.R110C

c.328C>T

1 paper

NM_005928.4

p.R107L

c.320G>T

2 papers

NM_005928.4

p.S89S

c.267G>A