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.C73S

c.217T>A

Surrounding Variants

1 paper

NM_001042683.3

p.V76L

c.226G>T

1 paper

NM_001042683.3

p.V76L

c.226G>C

1 paper

NM_001042683.3

p.V76M

c.226G>A

1 paper

NM_001042683.3

p.D69E

c.207T>G

1 paper

NM_001042683.3

p.D69E

c.207T>A

1 paper

NM_001042683.3

p.V77A

c.230T>C

1 paper

NM_001042683.3

p.R68G

c.202A>G

1 paper

NM_001042683.3

p.A66ins5

c.196_197ins15

1 paper

NM_001042683.3

p.K81*

c.241A>T

1 paper

NM_001042683.3

p.P82T

c.244C>A

1 paper

NM_001042683.3

p.K85N

c.255A>T

1 paper

NM_001042683.3

p.K85N

c.255A>C