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.H1158Y

c.3472C>T

Surrounding Variants

2 papers

NM_024675.4

p.H1158R

c.3473A>G

1 paper

NM_024675.4

p.H1158H

c.3474T>C

1 paper

NM_024675.4

p.W1159R

c.3475T>C

1 paper

NM_024675.4

p.W1159R

c.3475T>A

3 papers

NM_024675.4

p.Q1157*

c.3469C>T

1 paper

NM_024675.4

p.Q1157fs

c.3469_3470fs

2 papers

NM_024675.4

p.W1159L

c.3476G>T

3 papers

NM_024675.4

p.W1159*

c.3476G>A

1 paper

NM_024675.4

p.W1159delFs

c.3475delA

3 papers

NM_024675.4

p.W1159*

c.3477G>A

1 paper

NM_024675.4

p.D1156A

c.3467A>C

1 paper

NM_024675.4

p.V1154_S1155del2

c.3460_3464del6