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

8 papers

NM_024675.4

p.S1165L

c.3494C>T

Surrounding Variants

1 paper

NM_024675.4

p.S1165W

c.3494C>G

1 paper

NM_024675.4

p.S1165insFs

c.3493_3494insT

1 paper

NM_024675.4

p.S1165*

c.3494C>A

1 paper

NM_024675.4

p.S1165S

c.3495G>T

1 paper

NM_024675.4

p.S1165S

c.3495G>C

13 papers

NM_024675.4

p.S1165S

c.3495G>A

2 papers

NM_024675.4

p.G1166fs

c.3496_3497fs

4 papers

NM_024675.4

p.W1164C

c.3492G>T

1 paper

NM_024675.4

p.W1164_S1165insFs

c.3492_3493insT

4 papers

NM_024675.4

p.W1164C

c.3492G>C

5 papers

NM_024675.4

p.W1164*

c.3492G>A

1 paper

NM_024675.4

p.G1166S

c.3496G>A