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.Y982*

c.2946T>A

Surrounding Variants

2 papers

NM_006772.3

p.Y982*

c.2946T>G

1 paper

NM_006772.3

p.H980Fs

c.2938delinsCAFs

1 paper

NM_006772.3

p.S985_S990insFs

c.2955_2970dup16

1 paper

NM_006772.3

p.E986*

c.2956G>T

1 paper

NM_006772.3

p.F979_H980Fs

c.2936_2938delinsCAFs

2 papers

NM_006772.3

p.F979fs

c.2935_2936fs

3 papers

NM_006772.3

p.P978fs

c.2932_2933fs

2 papers

NM_006772.3

p.P978delFs

c.2933delC

1 paper

NM_006772.3

p.A977fs

c.2929_2930fs

1 paper

NM_006772.3

p.A977delFs

c.2929delG

1 paper

NM_006772.3

p.V992delFs

c.2974delG

1 paper

NM_006772.3

p.G991R

c.2971G>A