Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.R514C

FOXP1

466 papers

RefSeq Summary

This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene...

Pfam Domains

FOXP-CCaa 302–370UCSCFOXP coiled-coil domain
FOXP-CCaa 302–370UCSCFOXP coiled-coil domain
Forkheadaa 464–545UCSCForkhead domain
Forkheadaa 464–545UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box P1

HGNC Alias Symbols

QRF1; 12CC4; HSPC215; hFKH1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
16 papers
NM_001349338.3
p.R514C
c.1540C>T
Surrounding Variants
1 paper
NM_001349338.3
p.R514L
c.1541G>T
3 papers
NM_001349338.3
p.R514P
c.1541G>C
19 papers
NM_001349338.3
p.R514H
c.1541G>A
3 papers
NM_001349338.3
p.V513A
c.1538T>C
4 papers
NM_001349338.3
p.H515D
c.1543C>G
2 papers
NM_001349338.3
p.H515R
c.1544A>G
1 paper
NM_001349338.3
p.N511_H515delFs
c.1531_1544del14
1 paper
NM_001349338.3
p.L517R
c.1550T>G
1 paper
NM_001349338.3
p.K510_N511Splc
c.1531-1G>C
2 papers
NM_001349338.3
p.K510_N511Splc
c.1531-1G>A
2 papers
NM_001349338.3
p.L519fs
c.1555_1556fs
2 papers
NM_001349338.3
p.L519P
c.1556T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."