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

1 paper

NM_006715.4

p.G521A

c.1562G>C

Surrounding Variants

1 paper

NM_006715.4

p.S504L

c.1511C>T

1 paper

NM_006715.4

p.R538W

c.1612C>T

1 paper

NM_006715.4

p.H541Y

c.1621C>T

1 paper

NM_006715.4

p.T482M

c.1445C>T

1 paper

NM_006715.4

p.M472I

c.1416G>T

1 paper

NM_006715.4

p.M472I

c.1416G>C

1 paper

NM_006715.4

p.M472I

c.1416G>A

1 paper

NM_006715.4

p.L458F

c.1372C>T

2 papers

NM_006715.4

p.A456P

c.1366G>C

1 paper

NM_006715.4

p.R447Q

c.1340G>A

2 papers

NM_006715.4

p.N446S

c.1337A>G

1 paper

NM_006715.4

p.R569Splc

c.1707-2A>G