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.R810H

c.2429G>A

Surrounding Variants

1 paper

NM_006772.3

p.P811_P812del2

c.2431_2435del6

1 paper

NM_006772.3

p.P812L

c.2435C>T

9 papers

NM_006772.3

p.L813delFs

c.2438delT

6 papers

NM_006772.3

p.L813fs

c.2437_2438fs

1 paper

NM_006772.3

p.Y807fs

c.2419_2420fs

1 paper

NM_006772.3

p.F806delFs

c.2418delC

1 paper

NM_006772.3

p.R815H

c.2444G>A

1 paper

NM_006772.3

p.A819T

c.2455G>A

1 paper

NM_006772.3

p.T822_S823insC

c.2464_2468ins3

1 paper

NM_006772.3

p.P798insFs

c.2393_2394insA

1 paper

NM_006772.3

p.T822M

c.2465C>T

1 paper

NM_006772.3

p.P798fs

c.2392_2393fs