Varaico: Literature-Extracted Genetic Variants

SHPRH

128 papers

RefSeq Summary

SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5...

Pfam Domains

SNF2-rel_domaa 307–986UCSCSNF2-related domain

Linker_histoneaa 439–511UCSClinker histone H1 and H5 family

SHPRH_helical-1staa 1001–1095UCSCE3 ubiquitin-protein ligase SHPRH, first helical domain

SHPRH_helical-2ndaa 1126–1353UCSCE3 ubiquitin-protein ligase SHPRH, second helical domain

zf-RING_UBOXaa 1432–1476UCSCRING-type zinc-finger

Helicase_Caa 1510–1622UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

SNF2 histone linker PHD RING helicase

HGNC Alias Symbols

FLJ90837; KIAA2023; bA545I5.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042683.3

p.M185V

c.553A>G

Surrounding Variants

1 paper

NM_001042683.3

p.E187G

c.560A>G

1 paper

NM_001042683.3

p.S180F

c.539C>T

1 paper

NM_001042683.3

p.G190R

c.568G>C

1 paper

NM_001042683.3

p.G190R

c.568G>A

1 paper

NM_001042683.3

p.R196_R197ins15

c.586_590ins45

1 paper

NM_001042683.3

p.D172G

c.515A>G

1 paper

NM_001042683.3

p.Y201S

c.602A>C

2 papers

NM_001042683.3

p.M168V

c.502A>G

1 paper

NM_001042683.3

p.E166G

c.497A>G

2 papers

NM_001042683.3

p.K165delFs

c.495delT

3 papers

NM_001042683.3

p.K165fs

c.493_494fs

2 papers

NM_001042683.3

p.K164R

c.491A>G