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.Q377L

c.1130A>T

Surrounding Variants

1 paper

NM_024675.4

p.Q377R

c.1130A>G

1 paper

NM_024675.4

p.Q377P

c.1130A>C

3 papers

NM_024675.4

p.Q377*

c.1129C>T

1 paper

NM_024675.4

p.Q377E

c.1129C>G

2 papers

NM_024675.4

p.Q377H

c.1131A>T

1 paper

NM_024675.4

p.Q377Q

c.1131A>G

1 paper

NM_024675.4

p.Q377H

c.1131A>C

2 papers

NM_024675.4

p.S376R

c.1128T>G

1 paper

NM_024675.4

p.S376S

c.1128T>C

2 papers

NM_024675.4

p.S376R

c.1128T>A

2 papers

NM_024675.4

p.P378T

c.1132C>A

3 papers

NM_024675.4

p.S376T

c.1127G>C