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.K310R

c.929A>G

Surrounding Variants

1 paper

NM_020135.3

p.V308L

c.922G>C

1 paper

NM_020135.3

p.E315Q

c.943G>C

1 paper

NM_020135.3

p.K301R

c.902A>G

4 papers

NM_020135.3

p.T294A

c.880A>G

1 paper

NM_020135.3

p.E329Q

c.985G>C

1 paper

NM_020135.3

p.E329A

c.986A>C

1 paper

NM_020135.3

p.H288R

c.863A>G

1 paper

NM_020135.3

p.K335R

c.1004A>G

1 paper

NM_020135.3

p.Q338_D339Splc

c.1015-44C>G

1 paper

NM_020135.3

p.F341L

c.1021T>C

1 paper

NM_020135.3

p.F341C

c.1022T>G

1 paper

NM_020135.3

p.C347Y

c.1040G>A