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

1–12 of 154 variants

4 papers

NM_006715.4

p.K200_G201Splc

c.601-2A>G

3 papers

NM_006715.4

p.S141Splc

c.422+1G>A

3 papers

NM_006715.4

p.G203R

c.607G>C

3 papers

NM_006715.4

p.G203R

c.607G>A

2 papers

NM_006715.4

p.F26_T27delFs

c.76_80del5

2 papers

NM_006715.4

p.R323C

c.967C>T

2 papers

NM_006715.4

p.N446S

c.1337A>G

2 papers

NM_006715.4

p.A456P

c.1366G>C

2 papers

NM_006715.4

p.R768Q

c.2303G>A

2 papers

NM_006715.4

p.C871S

c.2611T>A

2 papers

NM_006715.4

p.C871S

c.2612G>C

1 paper

NM_006715.4

p.M1ins4

c.2_3ins12