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.L633P

c.1898T>C

Surrounding Variants

1 paper

NM_006772.3

p.Q631*

c.1891C>T

1 paper

NM_006772.3

p.F636_S637delFs

c.1908_1909delTT

3 papers

NM_006772.3

p.I630N

c.1889T>A

1 paper

NM_006772.3

p.S637fs

c.1909_1910fs

1 paper

NM_006772.3

p.K638Splc

c.1913+1G>A

1 paper

NM_006772.3

p.K638Splc

c.1913+5G>A

1 paper

NM_006772.3

p.T624A

c.1870A>G

18 papers

NM_006772.3

p.R621*

c.1861C>T

1 paper

NM_006772.3

p.D616G

c.1847A>G

1 paper

NM_006772.3

p.E613*

c.1837G>T

1 paper

NM_006772.3

p.F608fs

c.1822_1823fs

3 papers

NM_006772.3

p.F608fs

c.1822_1823fs