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.H966delFs

c.2896delC

Surrounding Variants

1 paper

NM_006772.3

p.H965fs

c.2893_2894fs

1 paper

NM_006772.3

p.H966fs

c.2896_2897fs

13 papers

NM_006772.3

p.R967*

c.2899C>T

1 paper

NM_006772.3

p.H966del1

c.2896_2897delCAC

1 paper

NM_006772.3

p.P972delFs

c.2916delT

1 paper

NM_006772.3

p.D974fs

c.2920_2921fs

1 paper

NM_006772.3

p.A977delFs

c.2929delG

2 papers

NM_006772.3

p.P978delFs

c.2933delC

1 paper

NM_006772.3

p.A977fs

c.2929_2930fs

2 papers

NM_006772.3

p.P953S

c.2857C>T

3 papers

NM_006772.3

p.P978fs

c.2932_2933fs

2 papers

NM_006772.3

p.F979fs

c.2935_2936fs