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.R1361*

c.4081C>T

Surrounding Variants

3 papers

NM_001042683.3

p.R1365C

c.4093C>T

1 paper

NM_001042683.3

p.R1365R

c.4095T>G

1 paper

NM_001042683.3

p.M1343L

c.4027A>T

1 paper

NM_001042683.3

p.M1343L

c.4027A>C

1 paper

NM_001042683.3

p.P1382L

c.4145C>T

1 paper

NM_001042683.3

p.R1389*

c.4165C>T

1 paper

NM_001042683.3

p.L1393L

c.4177C>T

1 paper

NM_001042683.3

p.Q1404*

c.4210C>T

1 paper

NM_001042683.3

p.S1322N

c.3965G>A

1 paper

NM_001042683.3

p.I1304M

c.3912A>G

1 paper

NM_001042683.3

p.E1296V

c.3887A>T

1 paper

NM_001042683.3

p.R1283Q

c.3848G>A