Varaico: Literature-Extracted Genetic Variants

SHANK2

223 papers

RefSeq Summary

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contai...

Pfam Domains

FERM_f0aa 57–133UCSCN-terminal or F0 domain of Talin-head FERM

Ank_2aa 168–261UCSCAnkyrin repeats (3 copies)

Ank_2aa 209–295UCSCAnkyrin repeats (3 copies)

Ank_2aa 302–393UCSCAnkyrin repeats (3 copies)

SH3_2aa 530–583UCSCVariant SH3 domain

PDZ_6aa 664–718UCSCPDZ domain

Gene Aliases

HGNC Name

SH3 and multiple ankyrin repeat domains 2

HGNC Previous Symbol

CORTBP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_133266.5

p.D45fs

c.133_134fs

NM_012309.5

p.D633fs

c.1897_1898fs

Surrounding Variants

7 papers

NM_133266.5

p.K44insFs

c.132dupA

NM_012309.5

p.K632insFs

c.1896dupA

2 papers

NM_012309.5

p.L629P

c.1886T>C

2 papers

NM_012309.5

p.L629L

c.1885C>T

1 paper

NM_012309.5

p.L641F

c.1921C>T

2 papers

NM_012309.5

p.G643R

c.1927G>C

2 papers

NM_012309.5

p.G643R

c.1927G>A

1 paper

NM_012309.5

p.A644V

c.1931C>T

5 papers

NM_133266.5

p.Y29*

c.87C>G

5 papers

NM_133266.5

p.Y29*

c.87C>A

1 paper

NM_012309.5

p.S618Splc

c.1854-111G>A

1 paper

NM_012309.5

p.S667F

c.2000C>T

1 paper

NM_012309.5

p.A674V

c.2021C>T