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.L1132_G1135delFs

c.3396_3405del10

Surrounding Variants

1 paper

NM_024675.4

p.T1136A

c.3406A>G

2 papers

NM_024675.4

p.G1135A

c.3404G>C

8 papers

NM_024675.4

p.G1135E

c.3404G>A

3 papers

NM_024675.4

p.I1137T

c.3410T>C

2 papers

NM_024675.4

p.A1138T

c.3412G>A

1 paper

NM_024675.4

p.T1133T

c.3399T>C

1 paper

NM_024675.4

p.A1138G

c.3413C>G

1 paper

NM_024675.4

p.A1138A

c.3414C>T

1 paper

NM_024675.4

p.T1133fs

c.3397_3398fs

1 paper

NM_024675.4

p.I1139T

c.3416T>C

1 paper

NM_024675.4

p.L1132*

c.3395T>A

13 papers

NM_024675.4

p.W1140G

c.3418T>G