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.D1052D

c.3156T>C

Surrounding Variants

1 paper

NM_024675.4

p.D1052delFs

c.3155delT

1 paper

NM_024675.4

p.D1052Y

c.3154G>T

3 papers

NM_024675.4

p.H1050_I1051del2

c.3148_3152del6

1 paper

NM_024675.4

p.D1053insFs

c.3157dupG

1 paper

NM_024675.4

p.D1053D

c.3159T>C

1 paper

NM_024675.4

p.I1051I

c.3153T>C

3 papers

NM_024675.4

p.I1051S

c.3152T>G

3 papers

NM_024675.4

p.I1051T

c.3152T>C

1 paper

NM_024675.4

p.I1051N

c.3152T>A

1 paper

NM_024675.4

p.D1053del1

c.3157_3159delATC

10 papers

NM_024675.4

p.H1050_D1053del4

c.3148_3158del12

2 papers

NM_024675.4

p.S1054C

c.3161C>G