Varaico: Literature-Extracted Genetic Variants

PCDHGA11

55 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 31–113UCSCCadherin-like

Cadherinaa 248–339UCSCCadherin domain

Cadherinaa 355–444UCSCCadherin domain

Cadherinaa 458–554UCSCCadherin domain

Cadherinaa 579–666UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 11

HGNC Alias Symbol

PCDH-GAMMA-A11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018914.3

p.M279L

c.835A>C

Surrounding Variants

1 paper

NM_018914.3

p.M279L

c.835A>T

1 paper

NM_018914.3

p.V304G

c.911T>G

2 papers

NM_018914.3

p.Y313*

c.939T>A

2 papers

NM_018914.3

p.Y313*

c.939T>G

1 paper

NM_018914.3

p.G327R

c.979G>C

1 paper

NM_018914.3

p.I222F

c.664A>T

1 paper

NM_018914.3

p.D220Y

c.658G>T

1 paper

NM_018914.3

p.L211P

c.632T>C

2 papers

NM_018914.3

p.D202H

c.604G>C

1 paper

NM_018914.3

p.A368V

c.1103C>T

1 paper

NM_018914.3

p.L370delFs

c.1110delA

1 paper

NM_018914.3

p.N371fs

c.1111_1112fs