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

13 papers

NM_024675.4

p.L484*

c.1451T>G

Surrounding Variants

14 papers

NM_024675.4

p.L484*

c.1451T>A

2 papers

NM_024675.4

p.L484F

c.1452A>T

2 papers

NM_024675.4

p.L484F

c.1452A>C

2 papers

NM_024675.4

p.L484fs

c.1450_1451fs

3 papers

NM_024675.4

p.L484delFs

c.1451delA

1 paper

NM_024675.4

p.T485fs

c.1453_1454fs

1 paper

NM_024675.4

p.S483S

c.1449A>T

1 paper

NM_024675.4

p.T485P

c.1453A>C

1 paper

NM_024675.4

p.T485_K486ins4

c.1453_1457ins12

1 paper

NM_024675.4

p.S483delFs

c.1447_1448delGA

1 paper

NM_024675.4

p.L482_S483del1

c.1446_1448delGAG

1 paper

NM_024675.4

p.L482_S483delFs

c.1444_1448del5