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.A1025G

c.3074C>G

Surrounding Variants

1 paper

NM_024675.4

p.A1025V

c.3074C>T

1 paper

NM_024675.4

p.A1025A

c.3075T>C

1 paper

NM_024675.4

p.A1025fs

c.3073_3074fs

1 paper

NM_024675.4

p.A1025S

c.3073G>T

3 papers

NM_024675.4

p.A1025P

c.3073G>C

11 papers

NM_024675.4

p.A1025T

c.3073G>A

2 papers

NM_024675.4

p.A1025_L1026delins

c.3075_3076delinsTT

1 paper

NM_024675.4

p.L1026P

c.3077T>C

1 paper

NM_024675.4

p.E1024G

c.3071A>G

2 papers

NM_024675.4

p.E1024delFs

c.3070delC

1 paper

NM_024675.4

p.L1026L

c.3078G>A

1 paper

NM_024675.4

p.E1024fs

c.3070_3071fs