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.L786P

c.2357T>C

Surrounding Variants

1 paper

NM_006772.3

p.R785P

c.2354G>C

1 paper

NM_006772.3

p.R785_L786insFs

c.2355_2356ins5

2 papers

NM_006772.3

p.R785insFs

c.2354_2355ins5

1 paper

NM_006772.3

p.S788P

c.2362T>C

1 paper

NM_006772.3

p.S788A

c.2362T>G

1 paper

NM_006772.3

p.A784T

c.2350G>A

1 paper

NM_006772.3

p.T790A

c.2368A>G

2 papers

NM_006772.3

p.T790fs

c.2368_2369fs

1 paper

NM_006772.3

p.T790N

c.2369C>A

2 papers

NM_006772.3

p.S779Splc

c.2337-1G>A

1 paper

NM_006772.3

p.P794L

c.2381C>T

1 paper

NM_006772.3

p.P796delFs

c.2387delC