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.G343R

c.1027G>C

Surrounding Variants

1 paper

NM_006715.4

p.G343R

c.1027G>A

1 paper

NM_006715.4

p.Q354E

c.1060C>G

1 paper

NM_006715.4

p.Q359_E360insFs

c.1077_1078insA

1 paper

NM_006715.4

p.E360V

c.1079A>T

1 paper

NM_006715.4

p.D372N

c.1114G>A

1 paper

NM_006715.4

p.Q382H

c.1146G>T

1 paper

NM_006715.4

p.Q382H

c.1146G>C

1 paper

NM_006715.4

p.H385insFs

c.1154_1155insCC

1 paper

NM_006715.4

p.G386D

c.1157G>A

1 paper

NM_006715.4

p.G388D

c.1163G>A

1 paper

NM_006715.4

p.I389M

c.1167C>G

1 paper

NM_006715.4

p.W399R

c.1195T>C