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.W697R

c.2089T>C

Surrounding Variants

1 paper

NM_006772.3

p.W697R

c.2089T>A

1 paper

NM_006772.3

p.W697*

c.2090G>A

1 paper

NM_006772.3

p.W697*

c.2091G>A

1 paper

NM_006772.3

p.V699_L700delFs

c.2097_2098delGC

1 paper

NM_006772.3

p.L700fs

c.2098_2099fs

7 papers

NM_006772.3

p.Q702*

c.2104C>T

1 paper

NM_006772.3

p.L689_T691Fs

c.2066_2071delinsCFs

1 paper

NM_006772.3

p.L689fs

c.2065_2066fs

1 paper

NM_006772.3

p.K705K

c.2115G>A

1 paper

NM_006772.3

p.K705_E706Splc

c.2115+1G>C

16 papers

NM_006772.3

p.R687*

c.2059C>T

3 papers

NM_006772.3

p.D684N

c.2050G>A