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.G681G

c.2043T>C

Surrounding Variants

1 paper

NM_006772.3

p.I683V

c.2047A>G

3 papers

NM_006772.3

p.D684N

c.2050G>A

16 papers

NM_006772.3

p.R687*

c.2059C>T

1 paper

NM_006772.3

p.S676N

c.2027G>A

1 paper

NM_006772.3

p.L689fs

c.2065_2066fs

1 paper

NM_006772.3

p.T674fs

c.2020_2021fs

1 paper

NM_006772.3

p.L689_T691Fs

c.2066_2071delinsCFs

2 papers

NM_006772.3

p.L673delFs

c.2019delA

1 paper

NM_006772.3

p.T672fs

c.2014_2015fs

1 paper

NM_006772.3

p.T672delFs

c.2014delA

1 paper

NM_006772.3

p.I667_S668delFs

c.1999_2002del4

1 paper

NM_006772.3

p.E666G

c.1997A>G