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.P117P

c.351T>C

Surrounding Variants

1 paper

NM_024675.4

p.P117fs

c.349_350fs

1 paper

NM_024675.4

p.P117P

c.351T>A

2 papers

NM_024675.4

p.P117L

c.350C>T

1 paper

NM_024675.4

p.P117R

c.350C>G

1 paper

NM_024675.4

p.P117H

c.350C>A

2 papers

NM_024675.4

p.I118L

c.352A>T

1 paper

NM_024675.4

p.I118V

c.352A>G

1 paper

NM_024675.4

p.I118L

c.352A>C

1 paper

NM_024675.4

p.P109_P117del9

c.325_350del27

1 paper

NM_024675.4

p.I118R

c.353T>G

5 papers

NM_024675.4

p.I118T

c.353T>C

1 paper

NM_024675.4

p.I118K

c.353T>A