Varaico: Literature-Extracted Genetic Variants

MTTP

424 papers

RefSeq Summary

MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, whi...

Pfam Domains

Vitellogenin_Naa 28–584UCSCLipoprotein amino terminal region

MTP_lip_bdaa 592–885UCSCMTP large subunit, lipid-binding domain

Gene Aliases

HGNC Name

microsomal triglyceride transfer protein

HGNC Previous Symbol

MTP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386140.1

p.G291R

c.871G>A

Surrounding Variants

1 paper

NM_001386140.1

p.G291R

c.871G>C

1 paper

NM_001386140.1

p.T285M

c.854C>T

36 papers

NM_001386140.1

p.H297Q

c.891C>A

38 papers

NM_001386140.1

p.H297Q

c.891C>G

1 paper

NM_001386140.1

p.D281_S282insFs

c.843_844ins4

1 paper

NM_001386140.1

p.A274_K278del5

c.820_833del15

1 paper

NM_001386140.1

p.A273delFs

c.817delG

1 paper

NM_001386140.1

p.Q272*

c.814C>T

1 paper

NM_001386140.1

p.M268T

c.803T>C

1 paper

NM_001386140.1

p.L267M

c.799T>A

1 paper

NM_001386140.1

p.R266K

c.797G>A

4 papers

NM_001386140.1

p.G264R

c.790G>C