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

17 papers

NM_012309.5

p.R841*

c.2521C>T

NM_001379226.1

p.R462*

c.1384C>T

Surrounding Variants

1 paper

NM_012309.5

p.P840S

c.2518C>T

1 paper

NM_012309.5

p.G838_I839insFs

c.2514_2515insG

1 paper

NM_012309.5

p.T843T

c.2529G>T

1 paper

NM_012309.5

p.L837fs

c.2509_2510fs

1 paper

NM_012309.5

p.R845Q

c.2534G>A

1 paper

NM_012309.5

p.R846K

c.2537G>A

4 papers

NM_012309.5

p.Q847delFs

c.2540_2541delCT

2 papers

NM_012309.5

p.T825M

c.2474C>T

2 papers

NM_012309.5

p.V823M

c.2467G>A

2 papers

NM_012309.5

p.A822T

c.2464G>A

1 paper

NM_012309.5

p.G820E

c.2459G>A

3 papers

NM_012309.5

p.R818H

c.2453G>A