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

1 paper

NM_012309.5

p.E1416D

c.4248A>C

Surrounding Variants

1 paper

NM_012309.5

p.E1416D

c.4248A>T

1 paper

NM_012309.5

p.T1408delFs

c.4224delT

1 paper

NM_012309.5

p.I1406I

c.4218T>A

1 paper

NM_012309.5

p.R1427W

c.4279C>T

1 paper

NM_012309.5

p.A1428E

c.4283C>A

2 papers

NM_012309.5

p.A1429S

c.4285G>T

2 papers

NM_012309.5

p.A1429A

c.4287T>C

1 paper

NM_012309.5

p.L1434R

c.4301T>G

5 papers

NM_133266.5

p.S847*

c.2540C>G

5 papers

NM_133266.5

p.S847*

c.2540C>A

5 papers

NM_133266.5

p.S847delFs

c.2540_2541delTG

1 paper

NM_012309.5

p.D1436A

c.4307A>C