Varaico: Literature-Extracted Genetic Variants

Gene:PBXIP1
Variant:p.P376S

PBXIP1

69 papers

RefSeq Summary

The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primar...

Pfam Domains

CCPG1_Naa 223–346UCSCCCPG1 N-terminal domain
CCPG1_Caa 592–694UCSCCCPG1 C-terminal domain

Gene Aliases

HGNC Name

PBX homeobox interacting protein 1

HGNC Alias Symbol

HPIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020524.4
p.P376S
c.1126C>T
Surrounding Variants
1 paper
NM_020524.4
p.D363G
c.1088A>G
1 paper
NM_020524.4
p.Q383_E388del6
c.1147_1163del18
11 papers
NM_020524.4
p.G357D
c.1070G>A
2 papers
NM_020524.4
p.R402*
c.1204C>T
1 paper
NM_020524.4
p.P349S
c.1045C>T
3 papers
NM_020524.4
p.L404Q
c.1211T>A
1 paper
NM_020524.4
p.A343T
c.1027G>A
1 paper
NM_020524.4
p.Q409*
c.1225C>T
1 paper
NM_020524.4
p.E342D
c.1026G>T
1 paper
NM_020524.4
p.E342D
c.1026G>C
1 paper
NM_020524.4
p.G340V
c.1019G>T
1 paper
NM_020524.4
p.R335Q
c.1004G>A
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