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

19 papers

NM_006772.3

p.R1194_V1195Splc

c.3583-6G>A

Surrounding Variants

9 papers

NM_006772.3

p.R1194_V1195Splc

c.3583-9G>A

1 paper

NM_006772.3

p.V1195M

c.3583G>A

11 papers

NM_006772.3

p.V1195fs

c.3583_3584fs

2 papers

NM_006772.3

p.E1197K

c.3589G>A

2 papers

NM_006772.3

p.Y1198delFs

c.3592delT

2 papers

NM_006772.3

p.Y1198fs

c.3592_3593fs

1 paper

NM_006772.3

p.H1203fs

c.3607_3608fs

1 paper

NM_006772.3

p.H1203_S1204delFs

c.3609_3610delCT

1 paper

NM_006772.3

p.L1205delFs

c.3614delT

1 paper

NM_006772.3

p.L1205fs

c.3613_3614fs

1 paper

NM_006772.3

p.K1206insFs

c.3618dupA

1 paper

NM_006772.3

p.E1207fs

c.3619_3620fs