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.L45I

c.133C>A

Surrounding Variants

1 paper

NM_006715.4

p.C40R

c.118T>C

1 paper

NM_006715.4

p.P51A

c.151C>G

1 paper

NM_006715.4

p.A38V

c.113C>T

1 paper

NM_006715.4

p.R53S

c.159A>T

1 paper

NM_006715.4

p.R53S

c.159A>C

1 paper

NM_006715.4

p.Q61H

c.183G>T

1 paper

NM_006715.4

p.Q61H

c.183G>C

1 paper

NM_006715.4

p.F73C

c.218T>G

1 paper

NM_006715.4

p.P75R

c.224C>G

1 paper

NM_006715.4

p.T76P

c.226A>C

2 papers

NM_006715.4

p.F26_T27delFs

c.76_80del5

1 paper

NM_006715.4

p.F26fs

c.76_77fs