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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLDN17

Variant:p.K65R

CLDN17

32 papers

RefSeq Summary

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solute...

Pfam Domains

PMP22_Claudinaa 4–182UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 17

HGNC Alias Symbols

MGC126552; MGC126554

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr21:30166424 T>C

NM_012131.3

p.K65R

c.194A>G

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

Surrounding Variants

1 paper

chr21:30166425 T>C

NM_012131.3

p.K65E

c.193A>G

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:30166416 T>A

NM_012131.3

p.S68C

c.202A>T

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:30166437 G>A

NM_012131.3

p.R61W

c.181C>T

PMP22_Claudin

Exome: 0.0% (AC=66, hom=0)Genome: 0.0% (AC=6, hom=0)9 overlapping SVs

1 paper

chr21:30166438 G>C

NM_012131.3

p.V60V

c.180C>G

PMP22_Claudin

Exome: 0.0% (AC=81, hom=0)Genome: 0.0% (AC=7, hom=0)9 overlapping SVs

1 paper

chr21:30166409 A>G

NM_012131.3

p.L70S

c.209T>C

PMP22_Claudin

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr21:30166449 G>C

NM_012131.3

p.Q57E

c.169C>G

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:30166451 C>T

NM_012131.3

p.R56Q

c.167G>A

PMP22_Claudin

Exome: 0.0% (AC=141, hom=0)Genome: 0.0% (AC=13, hom=0)9 overlapping SVs

1 paper

chr21:30166452 G>A

NM_012131.3

p.R56*

c.166C>T

PMP22_Claudin

Exome: 0.0% (AC=259, hom=0)Genome: 0.0% (AC=22, hom=0)9 overlapping SVs

1 paper

chr21:30166377 G>A

NM_012131.3

p.R81W

c.241C>T

PMP22_Claudin

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=0, hom=0)9 overlapping SVs

1 paper

chr21:30166376 C>T

NM_012131.3

p.R81Q

c.242G>A

PMP22_Claudin

Exome: 0.0% (AC=159, hom=0)Genome: 0.1% (AC=184, hom=2)9 overlapping SVs

3 papers

chr21:30166374 C>T

NM_012131.3

p.A82T

c.244G>A

PMP22_Claudin

Exome: 8.8% (AC=128217, hom=6291)Genome: 7.5% (AC=11366, hom=510)9 overlapping SVs

1 paper

chr21:30166474 T>A

NM_012131.3

p.E48D

c.144A>T

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

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