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

15 papers

NM_006772.3

p.P111delFs

c.333delA

Surrounding Variants

1 paper

NM_006772.3

p.P111_G112insFs

c.333_334insG

1 paper

NM_006772.3

p.P111fs

c.331_332fs

1 paper

NM_006772.3

p.G112A

c.335G>C

1 paper

NM_006772.3

p.K114fs

c.340_341fs

12 papers

NM_006772.3

p.K114fs

c.340_341fs

4 papers

NM_006772.3

p.K108fs

c.322_323fs

5 papers

NM_006772.3

p.R107_K108delFs

c.321_324del4

4 papers

NM_006772.3

p.Y116*

c.348C>A

4 papers

NM_006772.3

p.Y116*

c.348C>G

1 paper

NM_006772.3

p.S105del1

c.313_314delTCG

1 paper

NM_006772.3

p.E119G

c.356A>G

1 paper

NM_006772.3

p.G120D

c.359G>A