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.N1179N

c.3537T>C

Surrounding Variants

1 paper

NM_024675.4

p.N1179S

c.3536A>G

6 papers

NM_024675.4

p.I1180T

c.3539T>C

1 paper

NM_024675.4

p.N1179D

c.3535A>G

2 papers

NM_024675.4

p.I1180M

c.3540A>G

1 paper

NM_024675.4

p.D1177insFs

c.3531dupT

1 paper

NM_024675.4

p.G1178R

c.3532G>C

1 paper

NM_024675.4

p.G1178R

c.3532G>A

2 papers

NM_024675.4

p.F1181fs

c.3541_3542fs

3 papers

NM_024675.4

p.F1181delFs

c.3543delA

1 paper

NM_024675.4

p.V1182A

c.3545T>C

1 paper

NM_024675.4

p.Q1175delFs

c.3525delT

1 paper

NM_024675.4

p.V1182V

c.3546A>G