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

4 papers

NM_006772.3

p.R1043_P1044del2

c.3127_3131del6

Surrounding Variants

2 papers

NM_006772.3

p.A1045G

c.3134C>G

1 paper

NM_006772.3

p.S1047_G1048delFs

c.3141_3142delAG

1 paper

NM_006772.3

p.T1038delFs

c.3112delA

1 paper

NM_006772.3

p.G1048fs

c.3142_3143fs

1 paper

NM_006772.3

p.G1058S

c.3172G>A

2 papers

NM_006772.3

p.G1060insFs

c.3179dupG

2 papers

NM_006772.3

p.G1060delFs

c.3179delG

1 paper

NM_006772.3

p.D1026delFs

c.3078delC

1 paper

NM_006772.3

p.D1026fs

c.3076_3077fs

2 papers

NM_006772.3

p.G1060fs

c.3178_3179fs

2 papers

NM_006772.3

p.G1061fs

c.3181_3182fs

1 paper

NM_006772.3

p.G1062E

c.3185G>A