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

1 paper

NM_024675.4

p.W912L

c.2735G>T

Surrounding Variants

2 papers

NM_024675.4

p.W912S

c.2735G>C

5 papers

NM_024675.4

p.W912*

c.2735G>A

8 papers

NM_024675.4

p.W912G

c.2734T>G

1 paper

NM_024675.4

p.W912R

c.2734T>C

1 paper

NM_024675.4

p.W912R

c.2734T>A

1 paper

NM_024675.4

p.L909_T911del3

c.2725_2732del9

2 papers

NM_024675.4

p.W912C

c.2736G>T

2 papers

NM_024675.4

p.W912C

c.2736G>C

5 papers

NM_024675.4

p.W912*

c.2736G>A

2 papers

NM_024675.4

p.H913Y

c.2737C>T

1 paper

NM_024675.4

p.T911T

c.2733C>T

2 papers

NM_024675.4

p.H913D

c.2737C>G