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.L137_S140delFs

c.411_418del8

Surrounding Variants

1 paper

NM_006772.3

p.R136Q

c.407G>A

3 papers

NM_006772.3

p.R136W

c.406C>T

1 paper

NM_006772.3

p.L137delFs

c.410delT

1 paper

NM_006772.3

p.L137fs

c.409_410fs

1 paper

NM_006772.3

p.R135_L137Fs

c.404_411delinsTFs

10 papers

NM_006772.3

p.R135*

c.403C>T

1 paper

NM_006772.3

p.R135fs

c.403_404fs

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.S134R

c.402C>A

1 paper

NM_006772.3

p.S134R

c.402C>G