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.L883_P885insFs

c.2649_2653dup5

Surrounding Variants

1 paper

NM_006772.3

p.R884fs

c.2650_2651fs

5 papers

NM_006772.3

p.T878fs

c.2632_2633fs

1 paper

NM_006772.3

p.L877fs

c.2629_2630fs

3 papers

NM_006772.3

p.L877insFs

c.2630dupT

1 paper

NM_006772.3

p.L877delFs

c.2629_2630delCT

1 paper

NM_006772.3

p.S876fs

c.2626_2627fs

5 papers

NM_006772.3

p.Q893delFs

c.2677delC

2 papers

NM_006772.3

p.Q874*

c.2620C>T

4 papers

NM_006772.3

p.Q893fs

c.2677_2678fs

1 paper

NM_006772.3

p.G894_G903del10

c.2680_2708del30

1 paper

NM_006772.3

p.S898P

c.2692T>C

1 paper

NM_006772.3

p.L869_A875del7

c.2605_2624del21