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.S155delFs

c.463delA

Surrounding Variants

1 paper

NM_006772.3

p.S155fs

c.463_464fs

1 paper

NM_006772.3

p.S155insFs

c.465dupC

1 paper

NM_006772.3

p.T153N

c.458C>A

1 paper

NM_006772.3

p.T153I

c.458C>T

2 papers

NM_006772.3

p.T153fs

c.457_458fs

1 paper

NM_006772.3

p.T153delFs

c.457delA

2 papers

NM_006772.3

p.R152_T153insFs

c.456_457insG

3 papers

NM_006772.3

p.R152fs

c.454_455fs

1 paper

NM_006772.3

p.R157H

c.470G>A

2 papers

NM_006772.3

p.Q158*

c.472C>T

2 papers

NM_006772.3

p.R152_T153delFs

c.455_459del5

5 papers

NM_006772.3

p.L150fs

c.448_449fs