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.M422I

c.1266G>T

Surrounding Variants

1 paper

NM_020135.3

p.M422I

c.1266G>A

1 paper

NM_020135.3

p.M422I

c.1266G>C

1 paper

NM_020135.3

p.G443W

c.1327G>T

1 paper

NM_020135.3

p.R458_K459delFs

c.1374_1375delGA

1 paper

NM_020135.3

p.G466W

c.1396G>T

1 paper

NM_020135.3

p.S470F

c.1409C>T

1 paper

NM_020135.3

p.V474I

c.1420G>A

1 paper

NM_020135.3

p.E483fs

c.1447_1448fs

1 paper

NM_020135.3

p.E483_G484delFs

c.1449_1450delGG

2 papers

NM_020135.3

p.R487Q

c.1460G>A

1 paper

NM_020135.3

p.C502F

c.1505G>T

1 paper

NM_020135.3

p.K508_L519del12

c.1522_1556del36