Varaico: Literature-Extracted Genetic Variants

DCHS1

318 papers

RefSeq Summary

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique...

Pfam Domains

Cadherinaa 48–134UCSCCadherin domain

Cadherinaa 149–246UCSCCadherin domain

Cadherinaa 260–353UCSCCadherin domain

Cadherinaa 372–463UCSCCadherin domain

Cadherinaa 479–569UCSCCadherin domain

Cadherinaa 583–675UCSCCadherin domain

Gene Aliases

HGNC Name

dachsous cadherin-related 1

HGNC Previous Symbols

CDH25; PCDH16

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003737.4

p.V2812A

c.8435T>C

Surrounding Variants

1 paper

NM_003737.4

p.P2811S

c.8431C>T

1 paper

NM_003737.4

p.A2817D

c.8450C>A

1 paper

NM_003737.4

p.H2819Y

c.8455C>T

1 paper

NM_003737.4

p.L2802L

c.8404C>T

1 paper

NM_003737.4

p.E2824K

c.8470G>A

1 paper

NM_003737.4

p.S2800S

c.8400G>A

3 papers

NM_003737.4

p.R2827P

c.8480G>C

1 paper

NM_003737.4

p.G2786G

c.8358T>C

1 paper

NM_003737.4

p.G2843C

c.8527G>T

5 papers

NM_003737.4

p.R2770Q

c.8309G>A

1 paper

NM_003737.4

p.A2769A

c.8307G>A

1 paper

NM_003737.4

p.R2768H

c.8303G>A