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.M992insFs

c.2974_2975dupAT

Surrounding Variants

1 paper

NM_024675.4

p.M992delFs

c.2974_2975delAT

1 paper

NM_024675.4

p.M992K

c.2975T>A

1 paper

NM_024675.4

p.M992fs

c.2974_2975fs

4 papers

NM_024675.4

p.T993M

c.2978C>T

1 paper

NM_024675.4

p.V989_V991del3

c.2965_2972del9

1 paper

NM_024675.4

p.T993T

c.2979G>A

1 paper

NM_024675.4

p.V991V

c.2973C>T

1 paper

NM_024675.4

p.V991G

c.2972T>G

1 paper

NM_024675.4

p.V991A

c.2972T>C

1 paper

NM_024675.4

p.F994S

c.2981T>C

2 papers

NM_024675.4

p.F994Y

c.2981T>A

2 papers

NM_024675.4

p.V991F

c.2971G>T