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

7 papers

NM_024675.4

p.H1076Y

c.3226C>T

Surrounding Variants

4 papers

NM_024675.4

p.S1075R

c.3225T>G

4 papers

NM_024675.4

p.S1075R

c.3225T>A

1 paper

NM_024675.4

p.H1076P

c.3227A>C

1 paper

NM_024675.4

p.S1075fs

c.3223_3224fs

2 papers

NM_024675.4

p.H1076delFs

c.3228delA

3 papers

NM_024675.4

p.S1075G

c.3223A>G

4 papers

NM_024675.4

p.S1075R

c.3223A>C

1 paper

NM_024675.4

p.L1074R

c.3221T>G

1 paper

NM_024675.4

p.P1077P

c.3231C>T

1 paper

NM_024675.4

p.P1077P

c.3231C>A

1 paper

NM_024675.4

p.P1077insFs

c.3231dupC

1 paper

NM_024675.4

p.C1078S

c.3232T>A