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

2 papers

NM_020135.3

p.P44A

c.130C>G

Surrounding Variants

10 papers

NM_020135.3

p.D37A

c.110A>C

1 paper

NM_020135.3

p.S54T

c.160T>A

1 paper

NM_020135.3

p.H31Y

c.91C>T

1 paper

NM_020135.3

p.V22A

c.65T>C

1 paper

NM_020135.3

p.P67L

c.200C>T

1 paper

NM_020135.3

p.V18A

c.53T>C

1 paper

NM_020135.3

p.L15P

c.44T>C

1 paper

NM_020135.3

p.R73W

c.217C>T

1 paper

NM_020135.3

p.L74L

c.220C>T

1 paper

NM_020135.3

p.S13L

c.38C>T

1 paper

NM_020135.3

p.P6L

c.17C>T

1 paper

NM_020135.3

p.E95K

c.283G>A