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.R854fs

c.2560_2561fs

Surrounding Variants

3 papers

NM_006772.3

p.R854_S859delFs

c.2561_2577del17

1 paper

NM_006772.3

p.V860delFs

c.2578_2579delGT

1 paper

NM_006772.3

p.G848S

c.2542G>A

1 paper

NM_006772.3

p.V860fs

c.2578_2579fs

2 papers

NM_006772.3

p.Q847*

c.2539C>T

1 paper

NM_006772.3

p.L863delFs

c.2587_2588delCT

1 paper

NM_006772.3

p.L863fs

c.2587_2588fs

1 paper

NM_006772.3

p.A864fs

c.2590_2591fs

1 paper

NM_006772.3

p.A864V

c.2591C>T

1 paper

NM_006772.3

p.M843fs

c.2527_2528fs

1 paper

NM_006772.3

p.S842insFs

c.2526dupC

1 paper

NM_006772.3

p.V866V

c.2598A>G