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

4 papers

NM_133266.5

p.I441delFs

c.1322delA

Surrounding Variants

2 papers

NM_133266.5

p.I441fs

c.1321_1322fs

1 paper

NM_012309.5

p.S1028delFs

c.3084delG

1 paper

NM_012309.5

p.E1024E

c.3072G>A

1 paper

NM_012309.5

p.E1020E

c.3060G>A

1 paper

NM_012309.5

p.G1011V

c.3032G>T

1 paper

NM_133266.5

p.S460R

c.1378A>C

1 paper

NM_012309.5

p.R1008_K1010ins1

c.3024_3029dup6

1 paper

NM_133266.5

p.S460R

c.1380C>G

1 paper

NM_133266.5

p.S460R

c.1380C>A

3 papers

NM_012309.5

p.A1007T

c.3019G>A

1 paper

NM_012309.5

p.S997_V1002delFs

c.2989_3004del16

1 paper

NM_012309.5

p.P1063P

c.3189G>A