Varaico: Literature-Extracted Genetic Variants

WRNIP1

70 papers

RefSeq Summary

Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by t...

Pfam Domains

zf-WRNIP1_ubiaa 16–36UCSCWerner helicase-interacting protein 1 ubiquitin-binding domain

AAAaa 264–380UCSCATPase family associated with various cellular activities (AAA)

AAA_assoc_2aa 418–511UCSCAAA C-terminal domain

MgsA_Caa 512–664UCSCMgsA AAA+ ATPase C terminal

Gene Aliases

HGNC Name

WRN helicase interacting protein 1

HGNC Alias Symbols

WHIP; FLJ22526; bA420G6.2; FAP93; CFAP93

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020135.3

p.E216Q

c.646G>C

Surrounding Variants

1 paper

NM_020135.3

p.R219*

c.655C>T

2 papers

NM_020135.3

p.R211P

c.632G>C

1 paper

NM_020135.3

p.P226S

c.676C>T

1 paper

NM_020135.3

p.L227R

c.680T>G

1 paper

NM_020135.3

p.G201R

c.601G>A

1 paper

NM_020135.3

p.Q237E

c.709C>G

1 paper

NM_020135.3

p.A194V

c.581C>T

1 paper

NM_020135.3

p.Q237H

c.711G>C

1 paper

NM_020135.3

p.Q237H

c.711G>T

1 paper

NM_020135.3

p.A194T

c.580G>A

1 paper

NM_020135.3

p.A193T

c.577G>A

1 paper

NM_020135.3

p.D192G

c.575A>G