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.L304F

c.912G>C

Surrounding Variants

1 paper

NM_001042683.3

p.L304F

c.912G>T

1 paper

NM_001042683.3

p.P298S

c.892C>T

1 paper

NM_001042683.3

p.D294Y

c.880G>T

1 paper

NM_001042683.3

p.D260G

c.779A>G

1 paper

NM_001042683.3

p.R336*

c.1006C>T

1 paper

NM_001042683.3

p.E342K

c.1024G>A

1 paper

NM_001042683.3

p.N250K

c.750T>G

1 paper

NM_001042683.3

p.N250K

c.750T>A

1 paper

NM_001042683.3

p.M245I

c.735G>A

1 paper

NM_001042683.3

p.M245V

c.733A>G

1 paper

NM_001042683.3

p.K242R

c.725A>G

1 paper

NM_001042683.3

p.C354Splc

c.1061+2T>G