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.R30K

c.89G>A

Surrounding Variants

1 paper

NM_001042683.3

p.N24N

c.72T>C

1 paper

NM_001042683.3

p.R18W

c.52A>T

1 paper

NM_001042683.3

p.E16insFs

c.46_47insT

1 paper

NM_001042683.3

p.A52D

c.155C>A

1 paper

NM_001042683.3

p.R7H

c.20G>A

1 paper

NM_001042683.3

p.R7G

c.19C>G

1 paper

NM_001042683.3

p.R5fs

c.13_14fs

1 paper

NM_001042683.3

p.R5W

c.13C>T

1 paper

NM_001042683.3

p.M1I

c.3G>T

1 paper

NM_001042683.3

p.M1I

c.3G>C

1 paper

NM_001042683.3

p.M1I

c.3G>A

1 paper

NM_001042683.3

p.M1V

c.1A>G