Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.L519P

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
2 papers
NM_001349338.3
p.L519P
c.1556T>C
Surrounding Variants
2 papers
NM_001349338.3
p.L519fs
c.1555_1556fs
1 paper
NM_001349338.3
p.H520Y
c.1558C>T
3 papers
NM_001349338.3
p.H520R
c.1559A>G
1 paper
NM_001349338.3
p.L519del1
c.1555_1556delAAG
2 papers
NM_001349338.3
p.K521*
c.1561A>T
2 papers
NM_001349338.3
p.K521E
c.1561A>G
2 papers
NM_001349338.3
p.L519_H520delFs
c.1556_1560del5
1 paper
NM_001349338.3
p.L517R
c.1550T>G
1 paper
NM_001244812.3
p.K445Fs
c.1333_1335delinsAAFs
1 paper
NM_001349338.3
p.F523fs
c.1567_1568fs
1 paper
NM_001349338.3
p.S518_C522del0
c.1553_1564del12
1 paper
NM_001349338.3
p.N511_H515delFs
c.1531_1544del14
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