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.F608fs

c.1822_1823fs

Surrounding Variants

3 papers

NM_006772.3

p.F608fs

c.1822_1823fs

5 papers

NM_006772.3

p.F608delFs

c.1823_1824delTT

1 paper

NM_006772.3

p.S606R

c.1818T>A

1 paper

NM_006772.3

p.L607_D616del10

c.1819_1847del30

1 paper

NM_006772.3

p.P605R

c.1814C>G

1 paper

NM_006772.3

p.P605L

c.1814C>T

1 paper

NM_006772.3

p.P605S

c.1813C>T

2 papers

NM_006772.3

p.S604L

c.1811C>T

1 paper

NM_006772.3

p.E613*

c.1837G>T

3 papers

NM_006772.3

p.A601E

c.1802C>A

1 paper

NM_006772.3

p.A601T

c.1801G>A

1 paper

NM_006772.3

p.D616G

c.1847A>G