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.R793C

c.2377C>T

Surrounding Variants

1 paper

NM_001042683.3

p.R800H

c.2399G>A

1 paper

NM_001042683.3

p.D783Y

c.2347G>T

1 paper

NM_001042683.3

p.V782V

c.2346C>A

1 paper

NM_001042683.3

p.R776L

c.2327G>T

1 paper

NM_001042683.3

p.R776H

c.2327G>A

1 paper

NM_001042683.3

p.R815fs

c.2443_2444fs

1 paper

NM_001042683.3

p.C817C

c.2451C>T

1 paper

NM_001042683.3

p.V747ins2

c.2239_2240ins6

1 paper

NM_001042683.3

p.R837H

c.2510G>A

1 paper

NM_001042683.3

p.D857Splc

c.2569+2T>G

1 paper

NM_001042683.3

p.S740L

c.2219C>T

2 papers

NM_001042683.3

p.D732E

c.2196T>G