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

1–12 of 171 variants

5 papers

NM_001042683.3

p.Y881N

c.2641T>A

4 papers

NM_001042683.3

p.R1184C

c.3550C>T

3 papers

NM_001042683.3

p.D159A

c.476A>C

3 papers

NM_001042683.3

p.K165fs

c.493_494fs

3 papers

NM_001042683.3

p.Y465C

c.1394A>G

3 papers

NM_001042683.3

p.R1365C

c.4093C>T

2 papers

NM_001042683.3

p.K164R

c.491A>G

2 papers

NM_001042683.3

p.K165delFs

c.495delT

2 papers

NM_001042683.3

p.M168V

c.502A>G

2 papers

NM_001042683.3

p.R478R

c.1432C>A

2 papers

NM_001042683.3

p.M710V

c.2128A>G

2 papers

NM_001042683.3

p.D732E

c.2196T>G