Varaico: Literature-Extracted Genetic Variants

SYNGAP1

356 papers

RefSeq Summary

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology d...

Pfam Domains

PH_RASGAPaa 123–250UCSCPH domain-like

C2aa 262–365UCSCC2 domain

RasGAPaa 464–540UCSCGTPase-activator protein for Ras-like GTPase

RasGAPaa 532–635UCSCGTPase-activator protein for Ras-like GTPase

DAB2P_Caa 718–1319UCSCDisabled homolog 2-interacting protein, C-terminal domain

Gene Aliases

HGNC Name

synaptic Ras GTPase activating protein 1

HGNC Alias Symbols

RASA5; KIAA1938

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006772.3

p.R581W

c.1741C>T

Surrounding Variants

1 paper

NM_006772.3

p.R581G

c.1741C>G

1 paper

NM_006772.3

p.G580_I584delFs

c.1740_1750del11

1 paper

NM_006772.3

p.G580S

c.1738G>A

1 paper

NM_006772.3

p.G580fs

c.1738_1739fs

1 paper

NM_006772.3

p.E582*

c.1744G>T

2 papers

NM_006772.3

p.D583_A585ins1

c.1747_1755dup9

20 papers

NM_006772.3

p.R579*

c.1735C>T

2 papers

NM_006772.3

p.R579fs

c.1735_1736fs

1 paper

NM_006772.3

p.E578fs

c.1732_1733fs

2 papers

NM_006772.3

p.R579_G580delFs

c.1735_1738del4

1 paper

NM_006772.3

p.A577G

c.1730C>G

1 paper

NM_006772.3

p.A577insFs

c.1730dupC