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.L877fs

c.2629_2630fs

Surrounding Variants

3 papers

NM_006772.3

p.L877insFs

c.2630dupT

1 paper

NM_006772.3

p.L877delFs

c.2629_2630delCT

5 papers

NM_006772.3

p.T878fs

c.2632_2633fs

1 paper

NM_006772.3

p.S876fs

c.2626_2627fs

2 papers

NM_006772.3

p.Q874*

c.2620C>T

1 paper

NM_006772.3

p.L883_P885insFs

c.2649_2653dup5

1 paper

NM_006772.3

p.R884fs

c.2650_2651fs

1 paper

NM_006772.3

p.L869_A875del7

c.2605_2624del21

1 paper

NM_006772.3

p.D868fs

c.2602_2603fs

1 paper

NM_006772.3

p.V866V

c.2598A>G

2 papers

NM_006772.3

p.D868delFs

c.2602delG

1 paper

NM_006772.3

p.A864V

c.2591C>T