Varaico: Literature-Extracted Genetic Variants

Gene:PES1
Variant:p.P409T

PES1

51 papers

RefSeq Summary

This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, ...

Pfam Domains

Pescadillo_Naa 1–141UCSCPescadillo N-terminus
Pescadillo_Naa 7–280UCSCPescadillo N-terminus
BRCT_2aa 186–275UCSCBRCT domain

Gene Aliases

HGNC Name

pescadillo ribosomal biogenesis factor 1

HGNC Alias Symbol

NOP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014303.4
p.P409T
c.1225C>A
Surrounding Variants
1 paper
NM_014303.4
p.W397R
c.1189T>C
1 paper
NM_014303.4
p.W397R
c.1189T>A
1 paper
NM_014303.4
p.K430N
c.1290G>T
1 paper
NM_014303.4
p.G389S
c.1165G>A
1 paper
NM_014303.4
p.V368I
c.1102G>A
1 paper
NM_014303.4
p.S349S
c.1047T>C
1 paper
NM_014303.4
p.R495W
c.1483C>T
1 paper
NM_014303.4
p.R313C
c.937C>T
1 paper
NM_014303.4
p.A308V
c.923C>T
1 paper
NM_014303.4
p.K507_K508Splc
c.1522-1G>A
1 paper
NM_014303.4
p.Y546C
c.1637A>G
1 paper
NM_014303.4
p.V286M
c.856G>A
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