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

1 paper

NM_006772.3

p.A577insFs

c.1730dupC

Surrounding Variants

1 paper

NM_006772.3

p.A577G

c.1730C>G

2 papers

NM_006772.3

p.R579_G580delFs

c.1735_1738del4

1 paper

NM_006772.3

p.E578fs

c.1732_1733fs

3 papers

NM_006772.3

p.C576R

c.1726T>C

20 papers

NM_006772.3

p.R579*

c.1735C>T

1 paper

NM_006772.3

p.R575C

c.1723C>T

2 papers

NM_006772.3

p.R579fs

c.1735_1736fs

1 paper

NM_006772.3

p.R575fs

c.1723_1724fs

1 paper

NM_006772.3

p.L574delFs

c.1722delG

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.R573_L574insFs

c.1719_1720ins5