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

1–12 of 842 variants

20 papers

NM_006772.3

p.R579*

c.1735C>T

19 papers

NM_006772.3

p.R1194_V1195Splc

c.3583-6G>A

18 papers

NM_006772.3

p.R621*

c.1861C>T

16 papers

NM_006772.3

p.P562L

c.1685C>T

16 papers

NM_006772.3

p.R687*

c.2059C>T

16 papers

NM_006772.3

p.R1240*

c.3718C>T

15 papers

NM_006772.3

p.P111delFs

c.333delA

13 papers

NM_006772.3

p.R170Q

c.509G>A

13 papers

NM_006772.3

p.R967*

c.2899C>T

12 papers

NM_006772.3

p.K114fs

c.340_341fs

12 papers

NM_006772.3

p.R143*

c.427C>T

12 papers

NM_006772.3

p.R164*

c.490C>T