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

2 papers

NM_006715.4

p.R323C

c.967C>T

Surrounding Variants

1 paper

NM_006715.4

p.R323H

c.968G>A

1 paper

NM_006715.4

p.Q325R

c.974A>G

1 paper

NM_006715.4

p.Q318R

c.953A>G

1 paper

NM_006715.4

p.W333C

c.999G>T

1 paper

NM_006715.4

p.W305_V306del1

c.915_917delACC

1 paper

NM_006715.4

p.A296S

c.886G>T

1 paper

NM_006715.4

p.F295L

c.885T>G

1 paper

NM_006715.4

p.F295L

c.885T>A

1 paper

NM_006715.4

p.F295L

c.883T>C

1 paper

NM_006715.4

p.E292insFs

c.875dupA

1 paper

NM_006715.4

p.V281delFs

c.843delC

1 paper

NM_006715.4

p.V281fs

c.841_842fs