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.H154N

c.460C>A

Surrounding Variants

1 paper

NM_001042683.3

p.E158K

c.472G>A

3 papers

NM_001042683.3

p.D159A

c.476A>C

1 paper

NM_001042683.3

p.S145L

c.434C>T

1 paper

NM_001042683.3

p.K162N

c.486A>T

1 paper

NM_001042683.3

p.Q163K

c.487C>A

2 papers

NM_001042683.3

p.K164R

c.491A>G

3 papers

NM_001042683.3

p.K165fs

c.493_494fs

2 papers

NM_001042683.3

p.K165delFs

c.495delT

1 paper

NM_001042683.3

p.E166G

c.497A>G

2 papers

NM_001042683.3

p.M168V

c.502A>G

1 paper

NM_001042683.3

p.D172G

c.515A>G

1 paper

NM_001042683.3

p.E131*

c.391G>T