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.P917_L925del9

c.2749_2774del27

Surrounding Variants

1 paper

NM_006772.3

p.Q919*

c.2755C>T

10 papers

NM_006772.3

p.R922*

c.2764C>T

2 papers

NM_006772.3

p.Q908*

c.2722C>T

2 papers

NM_006772.3

p.L925delFs

c.2774delT

2 papers

NM_006772.3

p.L925fs

c.2773_2774fs

4 papers

NM_006772.3

p.Q928*

c.2782C>T

1 paper

NM_006772.3

p.L931_F932delFs

c.2793_2794delCT

1 paper

NM_006772.3

p.T900M

c.2699C>T

1 paper

NM_006772.3

p.F932fs

c.2794_2795fs

2 papers

NM_006772.3

p.H933R

c.2798A>G

1 paper

NM_006772.3

p.H933Q

c.2799C>A

1 paper

NM_006772.3

p.S898C

c.2693C>G