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

4 papers

NM_001042683.3

p.R1184C

c.3550C>T

Surrounding Variants

1 paper

NM_001042683.3

p.Q1190H

c.3570G>T

1 paper

NM_001042683.3

p.Q1190H

c.3570G>C

1 paper

NM_001042683.3

p.L1193_T1194delFs

c.3577_3580del4

1 paper

NM_001042683.3

p.R1220H

c.3659G>A

1 paper

NM_001042683.3

p.C1229F

c.3686G>T

1 paper

NM_001042683.3

p.R1235T

c.3704G>C

1 paper

NM_001042683.3

p.T1174A

c.3520A>G

1 paper

NM_001042683.3

p.K1171R

c.3512A>G

1 paper

NM_001042683.3

p.N1169H

c.3505A>C

1 paper

NM_001042683.3

p.R1163Q

c.3488G>A

1 paper

NM_001042683.3

p.L1158V

c.3472C>G

1 paper

NM_001042683.3

p.I1146T

c.3437T>C