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.V21V

c.63G>A

Surrounding Variants

1 paper

NM_006715.4

p.Y25H

c.73T>C

1 paper

NM_006715.4

p.F26fs

c.76_77fs

1 paper

NM_006715.4

p.F26fs

c.76_77fs

2 papers

NM_006715.4

p.F26_T27delFs

c.76_80del5

1 paper

NM_006715.4

p.T13R

c.38C>G

1 paper

NM_006715.4

p.T12P

c.34A>C

1 paper

NM_006715.4

p.W10delFs

c.29delC

1 paper

NM_006715.4

p.H9R

c.26A>G

1 paper

NM_006715.4

p.A6delFs

c.16delC

1 paper

NM_006715.4

p.M1ins4

c.2_3ins12

1 paper

NM_006715.4

p.M1ins5

c.2_3ins15

1 paper

NM_006715.4

p.M1R

c.2T>G