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.C502F

c.1505G>T

Surrounding Variants

1 paper

NM_020135.3

p.K508_L519del12

c.1522_1556del36

1 paper

NM_020135.3

p.G528_L533del6

c.1582_1598del18

1 paper

NM_020135.3

p.G529R

c.1585G>A

1 paper

NM_020135.3

p.G529R

c.1585G>C

2 papers

NM_020135.3

p.R537W

c.1609C>T

1 paper

NM_020135.3

p.A550G

c.1649C>G

1 paper

NM_020135.3

p.D551N

c.1651G>A

1 paper

NM_020135.3

p.A554E

c.1661C>A

1 paper

NM_020135.3

p.V559I

c.1675G>A

1 paper

NM_020135.3

p.A561T

c.1681G>A

1 paper

NM_020135.3

p.A561D

c.1682C>A

1 paper

NM_020135.3

p.C573Y

c.1718G>A