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.E593Splc

c.1778-79A>G

Surrounding Variants

1 paper

NM_012309.5

p.T594T

c.1782C>G

1 paper

NM_012309.5

p.R595C

c.1783C>T

5 papers

NM_012309.5

p.R598L

c.1793G>T

1 paper

NM_012309.5

p.S599N

c.1796G>A

1 paper

NM_012309.5

p.K601fs

c.1801_1802fs

1 paper

NM_012309.5

p.K601delFs

c.1801_1802delTT

4 papers

NM_012309.5

p.S610Y

c.1829C>A

2 papers

NM_012309.5

p.D615D

c.1845C>T