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.G1063_P1065del3

c.3187_3194del9

Surrounding Variants

1 paper

NM_006772.3

p.G1062E

c.3185G>A

2 papers

NM_006772.3

p.G1061fs

c.3181_3182fs

4 papers

NM_006772.3

p.Q1064*

c.3190C>T

2 papers

NM_006772.3

p.G1060fs

c.3178_3179fs

2 papers

NM_006772.3

p.G1060insFs

c.3179dupG

2 papers

NM_006772.3

p.G1060delFs

c.3179delG

1 paper

NM_006772.3

p.P1066L

c.3197C>T

1 paper

NM_006772.3

p.G1058S

c.3172G>A

3 papers

NM_006772.3

p.P1067delFs

c.3200delC

1 paper

NM_006772.3

p.P1067fs

c.3199_3200fs

1 paper

NM_006772.3

p.L1068L

c.3202T>C

2 papers

NM_006772.3

p.K1072_Q1075delFs

c.3215_3224del10