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

4 papers

NM_024675.4

p.V917fs

c.2749_2750fs

Surrounding Variants

1 paper

NM_024675.4

p.V917F

c.2749G>T

1 paper

NM_024675.4

p.V917L

c.2749G>C

1 paper

NM_024675.4

p.V917I

c.2749G>A

1 paper

NM_024675.4

p.V917G

c.2750T>G

7 papers

NM_024675.4

p.V917A

c.2750T>C

1 paper

NM_024675.4

p.V917D

c.2750T>A

5 papers

NM_024675.4

p.E916_V917Splc

c.2749-1G>T

5 papers

NM_024675.4

p.E916_V917Splc

c.2749-1G>C

2 papers

NM_024675.4

p.E916_V917Splc

c.2749-1G>A

2 papers

NM_024675.4

p.E916_V917Splc

c.2749-2A>G

1 paper

NM_024675.4

p.E916_V917Splc

c.2749-2A>C

4 papers

NM_024675.4

p.P918S

c.2752C>T