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_133266.5

p.V1008_Q1010ins1

c.3024_3029dup6

Surrounding Variants

1 paper

NM_012309.5

p.K1595Q

c.4783A>C

1 paper

NM_012309.5

p.L1604V

c.4810T>G

1 paper

NM_012309.5

p.Q1590P

c.4769A>C

2 papers

NM_133266.5

p.P997_Q1002delFs

c.2989_3004del16

2 papers

NM_012309.5

p.V1608I

c.4822G>A

1 paper

NM_012309.5

p.S1588R

c.4764T>G

1 paper

NM_012309.5

p.S1588R

c.4764T>A

1 paper

NM_012309.5

p.S1588R

c.4762A>C

1 paper

NM_012309.5

p.P1586P

c.4758G>A

2 papers

NM_012309.5

p.P1586L

c.4757C>T

2 papers

NM_133266.5

p.P997fs

c.2989_2990fs

1 paper

NM_133266.5

p.R1048*

c.3142C>T