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

3 papers

NM_012309.5

p.P1119T

c.3355C>A

Surrounding Variants

1 paper

NM_012309.5

p.R1122insFs

c.3364_3365dupCG

1 paper

NM_012309.5

p.P1123fs

c.3367_3368fs

1 paper

NM_012309.5

p.G1113S

c.3337G>A

2 papers

NM_012309.5

p.P1127L

c.3380C>T

1 paper

NM_012309.5

p.E1129E

c.3387G>A

1 paper

NM_012309.5

p.G1108W

c.3322G>T

1 paper

NM_012309.5

p.A1101delFs

c.3303delG

1 paper

NM_012309.5

p.A1101T

c.3301G>A

1 paper

NM_133266.5

p.E551K

c.1651G>A

1 paper

NM_012309.5

p.A1095T

c.3283G>A

2 papers

NM_012309.5

p.P1144L

c.3431C>T

1 paper

NM_012309.5

p.R1087H

c.3260G>A