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.H951fs

c.2851_2852fs

Surrounding Variants

1 paper

NM_006772.3

p.H951delFs

c.2853delT

2 papers

NM_006772.3

p.P953S

c.2857C>T

1 paper

NM_006772.3

p.G948fs

c.2842_2843fs

1 paper

NM_006772.3

p.G947R

c.2839G>A

1 paper

NM_006772.3

p.G947R

c.2839G>C

1 paper

NM_006772.3

p.G948delFs

c.2843delG

1 paper

NM_006772.3

p.P939fs

c.2815_2816fs

1 paper

NM_006772.3

p.P939_G940delFs

c.2815_2818del4

1 paper

NM_006772.3

p.H966del1

c.2896_2897delCAC

1 paper

NM_006772.3

p.H965fs

c.2893_2894fs

2 papers

NM_006772.3

p.H966delFs

c.2896delC

1 paper

NM_006772.3

p.H966fs

c.2896_2897fs