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.P922delFs

c.2765delG

Surrounding Variants

1 paper

NM_012309.5

p.A929T

c.2785G>A

1 paper

NM_012309.5

p.K931N

c.2793G>T

1 paper

NM_012309.5

p.P934insFs

c.2802dupC

1 paper

NM_012309.5

p.A935fs

c.2803_2804fs

1 paper

NM_012309.5

p.C908S

c.2723G>C

1 paper

NM_012309.5

p.C908S

c.2722T>A

1 paper

NM_012309.5

p.T940I

c.2819C>T

1 paper

NM_012309.5

p.S897S

c.2691C>T

1 paper

NM_012309.5

p.S897A

c.2689T>G

1 paper

NM_012309.5

p.V894G

c.2681T>G

1 paper

NM_012309.5

p.A942_Y951insFs

c.2826_2853dup28

1 paper

NM_012309.5

p.F952fs

c.2854_2855fs