Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_024675.4

p.E263*

c.787G>T

Surrounding Variants

1 paper

NM_024675.4

p.E263K

c.787G>A

2 papers

NM_024675.4

p.L262delFs

c.786delA

1 paper

NM_024675.4

p.E263G

c.788A>G

1 paper

NM_024675.4

p.V248_L262del15

c.742_785del45

2 papers

NM_024675.4

p.L262R

c.785T>G

3 papers

NM_024675.4

p.L262P

c.785T>C

1 paper

NM_024675.4

p.H261delFs

c.783delG

1 paper

NM_024675.4

p.Q260_H261del2

c.778_782del6

1 paper

NM_024675.4

p.E263D

c.789A>T

1 paper

NM_024675.4

p.E263D

c.789A>C

1 paper

NM_024675.4

p.E263_H264insFs

c.789_790ins16

2 papers

NM_024675.4

p.H264Y

c.790C>T