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

2 papers

NM_006772.3

p.T144_K145delFs

c.431_434del4

Surrounding Variants

2 papers

NM_006772.3

p.K142fs

c.424_425fs

12 papers

NM_006772.3

p.R143*

c.427C>T

2 papers

NM_006772.3

p.S140F

c.419C>T

2 papers

NM_006772.3

p.T144fs

c.430_431fs

3 papers

NM_006772.3

p.K145_K149insFs

c.435_447dup13

1 paper

NM_006772.3

p.K138fs

c.412_413fs

10 papers

NM_006772.3

p.K138*

c.412A>T

1 paper

NM_006772.3

p.K138fs

c.412_413fs

1 paper

NM_006772.3

p.S146*

c.437C>A

1 paper

NM_006772.3

p.S146*

c.437C>G

1 paper

NM_006772.3

p.Q147*

c.439C>T

1 paper

NM_006772.3

p.L137delFs

c.410delT