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

2 papers

NM_024675.4

p.E1081D

c.3243G>C

Surrounding Variants

2 papers

NM_024675.4

p.E1081D

c.3243G>T

1 paper

NM_024675.4

p.S1082G

c.3244A>G

1 paper

NM_024675.4

p.E1081*

c.3241G>T

4 papers

NM_024675.4

p.S1082fs

c.3244_3245fs

1 paper

NM_024675.4

p.S1082delFs

c.3245delC

1 paper

NM_024675.4

p.S1082delFs

c.3244_3245delCT

1 paper

NM_024675.4

p.P1077_K1080delFs

c.3229_3239del11

1 paper

NM_024675.4

p.E1083insFs

c.3247_3248insT

7 papers

NM_024675.4

p.E1083K

c.3247G>A

1 paper

NM_024675.4

p.S1082_E1083Fs

c.3245_3247delinsTGATFs

2 papers

NM_024675.4

p.K1080R

c.3239A>G

1 paper

NM_024675.4

p.K1080*

c.3238A>T