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

14 papers

NM_024675.4

p.S1102R

c.3304A>C

Surrounding Variants

1 paper

NM_024675.4

p.S1102insFs

c.3305_3306ins8

5 papers

NM_024675.4

p.S1102S

c.3306C>T

14 papers

NM_024675.4

p.S1102R

c.3306C>G

1 paper

NM_024675.4

p.S1102fs

c.3304_3305fs

14 papers

NM_024675.4

p.S1102R

c.3306C>A

1 paper

NM_024675.4

p.L1101_S1102Fs

c.3302_3306delinsTTAAFs

1 paper

NM_024675.4

p.L1101_S1102Fs

c.3302_3306delinsAATTFs

1 paper

NM_024675.4

p.K1098_L1101delFs

c.3293_3303del11

4 papers

NM_024675.4

p.V1103L

c.3307G>T

2 papers

NM_024675.4

p.T1100_S1102insFs

c.3299_3306dup8

4 papers

NM_024675.4

p.V1103L

c.3307G>C

15 papers

NM_024675.4

p.V1103M

c.3307G>A