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.R749Splc

c.2246+5A>G

Surrounding Variants

1 paper

NM_006715.4

p.R749W

c.2245C>T

1 paper

NM_006715.4

p.T748I

c.2243C>T

1 paper

NM_006715.4

p.L746L

c.2238G>A

1 paper

NM_001256494.2

p.P750S

c.2248C>T

1 paper

NM_006715.4

p.R749W

c.2245C>T

1 paper

NM_006715.4

p.I717fs

c.2149_2150fs

1 paper

NM_006715.4

p.I717delFs

c.2149delT

2 papers

NM_006715.4

p.R768Q

c.2303G>A

1 paper

NM_006715.4

p.S781C

c.2341A>T

1 paper

NM_006715.4

p.Y795C

c.2384A>G

1 paper

NM_006715.4

p.K812R

c.2435A>G

1 paper

NM_006715.4

p.E827Q

c.2479G>C