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.V588E

c.1763T>A

Surrounding Variants

1 paper

NM_006715.4

p.Y596H

c.1786T>C

1 paper

NM_006715.4

p.R569Splc

c.1707-2A>G

1 paper

NM_006715.4

p.R600C

c.1798C>T

1 paper

NM_006715.4

p.R600H

c.1799G>A

1 paper

NM_006715.4

p.T605delFs

c.1815delT

1 paper

NM_006715.4

p.L625del1

c.1873_1875delGAG

1 paper

NM_006715.4

p.H541Y

c.1621C>T

1 paper

NM_006715.4

p.R538W

c.1612C>T

1 paper

NM_006715.4

p.N628_T629del0

c.1882_1887del6

1 paper

NM_006715.4

p.L630_P631del1

c.1890_1892delGGC

1 paper

NM_006715.4

p.L630_P631del2

c.1888_1892del6

1 paper

NM_006715.4

p.R634L

c.1901G>T