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.L664delFs

c.1991delT

Surrounding Variants

1 paper

NM_006772.3

p.L664_F679del16

c.1990_2036del48

2 papers

NM_006772.3

p.Q662*

c.1984C>T

1 paper

NM_006772.3

p.F663S

c.1988T>C

1 paper

NM_006772.3

p.L664S

c.1991T>C

5 papers

NM_006772.3

p.Y665*

c.1995T>A

5 papers

NM_006772.3

p.Y665*

c.1995T>G

1 paper

NM_006772.3

p.S659Y

c.1976C>A

1 paper

NM_006772.3

p.E666G

c.1997A>G

1 paper

NM_006772.3

p.I667_S668delFs

c.1999_2002del4

2 papers

NM_006772.3

p.W657*

c.1971G>A

2 papers

NM_006772.3

p.W657*

c.1970G>A

1 paper

NM_006772.3

p.E656K

c.1966G>A