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

16 papers

NM_006772.3

p.P562L

c.1685C>T

Surrounding Variants

1 paper

NM_006772.3

p.P562fs

c.1684_1685fs

1 paper

NM_006772.3

p.P562delFs

c.1685delC

1 paper

NM_006772.3

p.V560fs

c.1678_1679fs

1 paper

NM_006772.3

p.C559*

c.1677C>A

2 papers

NM_006772.3

p.C559Splc

c.1677-1G>C

1 paper

NM_006772.3

p.C559Splc

c.1677-2A>G

1 paper

NM_006772.3

p.S571S

c.1713G>A

1 paper

NM_006772.3

p.S571_W572delins

c.1713_1714delinsAC

2 papers

NM_006772.3

p.W572R

c.1714T>A

2 papers

NM_006772.3

p.W572R

c.1714T>C

1 paper

NM_006772.3

p.W572G

c.1714T>G

3 papers

NM_006772.3

p.W572*

c.1715G>A