Varaico: Literature-Extracted Genetic Variants

MAN2C1

15q24.2 (UCSC)OMIM PanelApp GTEx

90 papers

Pfam Domains

Ams1-like_1staa 40–179UCSCAlpha-mannosidase, jelly roll domain

Glyco_hydro_38Naa 250–513UCSCGlycosyl hydrolases family 38 N-terminal domain

Alpha-mann_midaa 517–614UCSCAlpha mannosidase middle domain

Glyco_hydro_38Caa 689–896UCSCGlycosyl hydrolases family 38 C-terminal domain

Gene Aliases

HGNC Name

mannosidase alpha class 2C member 1

HGNC Previous Symbols

MANA1; MANA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006715.4

p.S141Splc

c.422+1G>A

Surrounding Variants

1 paper

NM_006715.4

p.S141N

c.422G>A

1 paper

NM_006715.4

p.R140Q

c.419G>A

1 paper

NM_006715.4

p.R137K

c.410G>A

1 paper

NM_006715.4

p.W110*

c.329G>A

1 paper

NM_006715.4

p.V97I

c.289G>A

1 paper

NM_006715.4

p.W81C

c.243G>C

1 paper

NM_006715.4

p.W78*

c.234G>A

1 paper

NM_006715.4

p.W78*

c.233G>A

1 paper

NM_006715.4

p.W77*

c.231G>A

1 paper

NM_006715.4

p.W77*

c.230G>A

1 paper

NM_006715.4

p.T76P

c.226A>C

1 paper

NM_006715.4

p.T76P

c.226A>C