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.T1015I

c.3044C>T

Surrounding Variants

1 paper

NM_024675.4

p.T1015N

c.3044C>A

4 papers

NM_024675.4

p.F1016fs

c.3046_3047fs

3 papers

NM_024675.4

p.F1016C

c.3047T>G

4 papers

NM_024675.4

p.F1016S

c.3047T>C

9 papers

NM_024675.4

p.F1016fs

c.3046_3047fs

1 paper

NM_024675.4

p.A1017fs

c.3049_3050fs

1 paper

NM_024675.4

p.A1017S

c.3049G>T

1 paper

NM_024675.4

p.A1017P

c.3049G>C

3 papers

NM_024675.4

p.A1017T

c.3049G>A

17 papers

NM_024675.4

p.F1016delFs

c.3048delA

1 paper

NM_024675.4

p.F1016delFs

c.3047_3048delAA

1 paper

NM_024675.4

p.I1013I

c.3039A>T