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

4 papers

NM_006715.4

p.K200_G201Splc

c.601-2A>G

Surrounding Variants

1 paper

NM_006715.4

p.K200_G201Splc

c.601-1G>C

1 paper

NM_006715.4

p.G201fs

c.601_602fs

3 papers

NM_006715.4

p.G203R

c.607G>C

3 papers

NM_006715.4

p.G203R

c.607G>A

1 paper

NM_006715.4

p.K204N

c.612G>T

1 paper

NM_006715.4

p.K204N

c.612G>C

1 paper

NM_006715.4

p.S209delFs

c.625delT

1 paper

NM_006715.4

p.F210L

c.628T>C

1 paper

NM_006715.4

p.F210L

c.630C>G

1 paper

NM_006715.4

p.F210L

c.630C>A

1 paper

NM_006715.4

p.F210delFs

c.628_629delAA

1 paper

NM_006715.4

p.F210_Q211delFs

c.630_631delGG