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.G1174E

c.3521G>A

Surrounding Variants

1 paper

NM_024675.4

p.G1174*

c.3520G>T

5 papers

NM_024675.4

p.G1174R

c.3520G>C

6 papers

NM_024675.4

p.G1174R

c.3520G>A

3 papers

NM_024675.4

p.Q1175*

c.3523C>T

1 paper

NM_024675.4

p.Q1175K

c.3523C>A

4 papers

NM_024675.4

p.A1173V

c.3518C>T

1 paper

NM_024675.4

p.A1173T

c.3517G>A

1 paper

NM_024675.4

p.Q1175Q

c.3525A>G

5 papers

NM_024675.4

p.L1172P

c.3515T>C

1 paper

NM_024675.4

p.L1172V

c.3514C>G

1 paper

NM_024675.4

p.L1171F

c.3513G>T

1 paper

NM_024675.4

p.L1171fs

c.3511_3512fs