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

2 papers

NM_133266.5

p.A770insFs

c.2310dupT

Surrounding Variants

1 paper

NM_012309.5

p.P1367A

c.4099C>G

1 paper

NM_012309.5

p.G1351S

c.4051G>A

2 papers

NM_012309.5

p.E1350K

c.4048G>A

1 paper

NM_012309.5

p.P1371P

c.4113C>T

4 papers

NM_012309.5

p.V1376I

c.4126G>A

1 paper

NM_012309.5

p.V1385V

c.4155G>A

1 paper

NM_133266.5

p.P800L

c.2399C>T

1 paper

NM_012309.5

p.F1389ins2

c.4166_4167ins6

2 papers

NM_012309.5

p.A1327T

c.3979G>A

1 paper

NM_012309.5

p.T1322S

c.3965C>G

1 paper

NM_012309.5

p.T1322S

c.3964A>T

1 paper

NM_012309.5

p.D1320D

c.3960C>T