Varaico: Literature-Extracted Genetic Variants

PDZD2

185 papers

RefSeq Summary

The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum...

Pfam Domains

PDZaa 334–416UCSCPDZ domain

PDZaa 587–671UCSCPDZ domain

PDZaa 728–811UCSCPDZ domain

PDZaa 2623–2698UCSCPDZ domain

PDZaa 2751–2833UCSCPDZ domain

Gene Aliases

HGNC Name

PDZ domain containing 2

HGNC Previous Symbol

PDZK3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_178140.4

p.R2667Q

c.8000G>A

Surrounding Variants

1 paper

NM_178140.4

p.R2667*

c.7999C>T

1 paper

NM_178140.4

p.V2674L

c.8020G>C

1 paper

NM_178140.4

p.A2658V

c.7973C>T

1 paper

NM_178140.4

p.V2702M

c.8104G>A

1 paper

NM_178140.4

p.P2711S

c.8131C>T

1 paper

NM_178140.4

p.P2737A

c.8209C>G

1 paper

NM_178140.4

p.K2646fs

c.7936_7937fs

1 paper

NM_178140.4

p.E2618_D2619del1

c.7854_7856delAGA

1 paper

NM_178140.4

p.R2741K

c.8222G>A

1 paper

NM_178140.4

p.S2763G

c.8287A>G

1 paper

NM_178140.4

p.E2609K

c.7825G>A

1 paper

NM_178140.4

p.S2599S

c.7797G>T