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.I1035T

c.3104T>C

Surrounding Variants

1 paper

NM_024675.4

p.I1035N

c.3104T>A

1 paper

NM_024675.4

p.I1035fs

c.3103_3104fs

1 paper

NM_024675.4

p.I1035F

c.3103A>T

4 papers

NM_024675.4

p.I1035V

c.3103A>G

4 papers

NM_024675.4

p.V1036L

c.3106G>C

1 paper

NM_024675.4

p.N1034N

c.3102C>T

4 papers

NM_024675.4

p.V1036A

c.3107T>C

1 paper

NM_024675.4

p.N1034I

c.3101A>T

1 paper

NM_024675.4

p.V1036V

c.3108T>A

1 paper

NM_024675.4

p.N1033N

c.3099C>T

1 paper

NM_024675.4

p.V1036delFs

c.3108delA

1 paper

NM_024675.4

p.V1036del1

c.3106_3107delAAC