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

127 papers

NM_024675.4

p.W1038*

c.3113G>A

Surrounding Variants

1 paper

NM_024675.4

p.W1038L

c.3113G>T

1 paper

NM_024675.4

p.V1036_W1038delFs

c.3108_3112del5

2 papers

NM_024675.4

p.W1038Splc

c.3113+1G>A

1 paper

NM_024675.4

p.W1038fs

c.3112_3113fs

1 paper

NM_024675.4

p.I1037fs

c.3109_3110fs

1 paper

NM_024675.4

p.W1038Splc

c.3113+2T>C

1 paper

NM_024675.4

p.I1037I

c.3111T>C

1 paper

NM_024675.4

p.A1025_W1038delFs

c.3073_3113del41

5 papers

NM_024675.4

p.I1037T

c.3110T>C

2 papers

NM_024675.4

p.W1038Splc

c.3113+3A>G

1 paper

NM_024675.4

p.V1036delFs

c.3108delA

1 paper

NM_024675.4

p.V1036del1

c.3106_3107delAAC