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.D628Y

c.1882G>T

Surrounding Variants

1 paper

NM_020135.3

p.D628N

c.1882G>A

1 paper

NM_020135.3

p.D628H

c.1882G>C

1 paper

NM_020135.3

p.K633R

c.1898A>G

1 paper

NM_020135.3

p.A621A

c.1863G>A

1 paper

NM_020135.3

p.K636R

c.1907A>G

1 paper

NM_020135.3

p.L618P

c.1853T>C

1 paper

NM_020135.3

p.P615L

c.1844C>T

1 paper

NM_020135.3

p.E643A

c.1928A>C

1 paper

NM_020135.3

p.P613ins1

c.1837_1838insACC

1 paper

NM_020135.3

p.K601*

c.1801A>T

1 paper

NM_020135.3

p.N598S

c.1793A>G

1 paper

NM_020135.3

p.V593M

c.1777G>A