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.C1147insFs

c.3439dupT

Surrounding Variants

1 paper

NM_024675.4

p.I1139_Q1146delFs

c.3416_3438del23

1 paper

NM_024675.4

p.C1147*

c.3441T>A

2 papers

NM_024675.4

p.Q1146H

c.3438G>T

1 paper

NM_024675.4

p.Q1146H

c.3438G>C

1 paper

NM_024675.4

p.Q1146Q

c.3438G>A

1 paper

NM_024675.4

p.T1148T

c.3444T>C

3 papers

NM_024675.4

p.Q1146*

c.3436C>T

1 paper

NM_024675.4

p.Q1146K

c.3436C>A

1 paper

NM_024675.4

p.A1149S

c.3445G>T

3 papers

NM_024675.4

p.G1145C

c.3433G>T

8 papers

NM_024675.4

p.G1145R

c.3433G>C

6 papers

NM_024675.4

p.G1145S

c.3433G>A