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.F915_D917del0

c.2744_2749del6

Surrounding Variants

1 paper

NM_006715.4

p.D917A

c.2750A>C

1 paper

NM_006715.4

p.F915_D917del3

c.2743_2750del9

1 paper

NM_006715.4

p.S938R

c.2812A>C

1 paper

NM_006715.4

p.S938R

c.2814C>G

1 paper

NM_006715.4

p.S938R

c.2814C>A

1 paper

NM_006715.4

p.H911_K912delFs

c.2733_2734delTG

1 paper

NM_006715.4

p.H911fs

c.2731_2732fs

1 paper

NM_006715.4

p.P910L

c.2729C>T

1 paper

NM_006715.4

p.S965T

c.2894G>C

1 paper

NM_006715.4

p.I881insFs

c.2641_2642dupAT

2 papers

NM_006715.4

p.C871S

c.2612G>C

2 papers

NM_006715.4

p.C871S

c.2611T>A