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.P1077delFs

c.3231delG

Surrounding Variants

1 paper

NM_024675.4

p.P1077insFs

c.3231dupC

1 paper

NM_024675.4

p.C1078S

c.3232T>A

1 paper

NM_024675.4

p.C1078fs

c.3232_3233fs

2 papers

NM_024675.4

p.C1078S

c.3233G>C

1 paper

NM_024675.4

p.P1077P

c.3231C>T

1 paper

NM_024675.4

p.P1077P

c.3231C>A

1 paper

NM_024675.4

p.C1078C

c.3234T>C

3 papers

NM_024675.4

p.C1078*

c.3234T>A

1 paper

NM_024675.4

p.G1068_C1078del0

c.3204_3233del30

5 papers

NM_024675.4

p.A1079S

c.3235G>T

2 papers

NM_024675.4

p.H1076delFs

c.3228delA

1 paper

NM_024675.4

p.A1079V

c.3236C>T