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.W1159*

c.3476G>A

Surrounding Variants

2 papers

NM_024675.4

p.W1159L

c.3476G>T

1 paper

NM_024675.4

p.W1159delFs

c.3475delA

1 paper

NM_024675.4

p.W1159R

c.3475T>C

1 paper

NM_024675.4

p.W1159R

c.3475T>A

3 papers

NM_024675.4

p.W1159*

c.3477G>A

4 papers

NM_024675.4

p.S1160P

c.3478T>C

1 paper

NM_024675.4

p.H1158H

c.3474T>C

2 papers

NM_024675.4

p.S1160F

c.3479C>T

1 paper

NM_024675.4

p.S1160C

c.3479C>G

2 papers

NM_024675.4

p.H1158R

c.3473A>G

1 paper

NM_024675.4

p.H1158Y

c.3472C>T

2 papers

NM_024675.4

p.F1161fs

c.3481_3482fs