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.L1144P

c.3431T>C

Surrounding Variants

3 papers

NM_024675.4

p.L1144F

c.3430C>T

2 papers

NM_024675.4

p.L1144L

c.3432C>T

1 paper

NM_024675.4

p.L1144L

c.3432C>G

1 paper

NM_024675.4

p.L1144V

c.3430C>G

10 papers

NM_024675.4

p.L1142_L1143delFs

c.3426_3429del4

1 paper

NM_024675.4

p.L1142_L1143del2

c.3424_3428del6

2 papers

NM_024675.4

p.W1140_L1143del4

c.3418_3428del12

6 papers

NM_024675.4

p.L1143fs

c.3427_3428fs

3 papers

NM_024675.4

p.G1145C

c.3433G>T

8 papers

NM_024675.4

p.G1145R

c.3433G>C

6 papers

NM_024675.4

p.G1145S

c.3433G>A

18 papers

NM_024675.4

p.L1143P

c.3428T>C