Varaico: Literature-Extracted Genetic Variants

CDH23

1,033 papers

RefSeq Summary

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and ...

Pfam Domains

Cadherinaa 39–122UCSCCadherin domain

Cadherinaa 137–227UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin related 23

HGNC Previous Symbols

DFNB12; USH1D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022124.6

p.S50S

c.150T>C

Surrounding Variants

1 paper

NM_022124.6

p.S50delFs

c.150delT

1 paper

NM_022124.6

p.S50P

c.148T>C

1 paper

NM_022124.6

p.V52_L56del0

c.155_166del12

1 paper

NM_022124.6

p.G49Splc

c.146-1G>A

1 paper

NM_022124.6

p.Q54delFs

c.162delG

2 papers

NM_022124.6

p.L56L

c.166C>T

16 papers

NM_022124.6

p.L56delFs

c.167delT

1 paper

NM_022124.6

p.L56L

c.168G>A

1 paper

NM_022124.6

p.A57D

c.170C>A

1 paper

NM_022124.6

p.A57V

c.170C>T

5 papers

NM_022124.6

p.Q58*

c.172C>T

2 papers

NM_022124.6

p.Q58R

c.173A>G