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.L1241delFs

c.3722_3723delTG

Surrounding Variants

1 paper

NM_006772.3

p.L1241V

c.3721C>G

2 papers

NM_006772.3

p.L1241fs

c.3721_3722fs

17 papers

NM_006772.3

p.R1240*

c.3718C>T

NM_001130066.2

p.R1224*

c.3670C>T

1 paper

NM_006772.3

p.E1242delFs

c.3725delA

1 paper

NM_006772.3

p.S1244_E1245delFs

c.3732_3735del4

1 paper

NM_006772.3

p.S1244fs

c.3730_3731fs

5 papers

NM_006772.3

p.Q1236*

c.3706C>T

1 paper

NM_006772.3

p.Q1252_A1253del2

c.3754_3758del6

3 papers

NM_006772.3

p.A1253_E1254del2

c.3757_3761del6

1 paper

NM_006772.3

p.Q1229fs

c.3685_3686fs

1 paper

NM_006772.3

p.Q1229*

c.3685C>T

1 paper

NM_006772.3

p.E1228K

c.3682G>A