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

13 papers

NM_006772.3

p.R170Q

c.509G>A

Surrounding Variants

1 paper

NM_006772.3

p.R170P

c.509G>C

5 papers

NM_006772.3

p.R170Splc

c.509+1G>A

5 papers

NM_006772.3

p.R170Splc

c.509+1G>T

1 paper

NM_006772.3

p.R164Q

c.491G>A

12 papers

NM_006772.3

p.R164*

c.490C>T

2 papers

NM_006772.3

p.R162C

c.484C>T

2 papers

NM_006772.3

p.Q158*

c.472C>T

1 paper

NM_006772.3

p.R157H

c.470G>A

1 paper

NM_006772.3

p.S155insFs

c.465dupC

1 paper

NM_006772.3

p.S155fs

c.463_464fs

1 paper

NM_006772.3

p.S155delFs

c.463delA

1 paper

NM_006772.3

p.T153N

c.458C>A