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.H83P

c.248A>C

Surrounding Variants

3 papers

NM_024675.4

p.H83L

c.248A>T

2 papers

NM_024675.4

p.H83R

c.248A>G

1 paper

NM_024675.4

p.H83H

c.249C>T

1 paper

NM_024675.4

p.H83Y

c.247C>T

1 paper

NM_024675.4

p.H83Q

c.249C>G

1 paper

NM_024675.4

p.H83D

c.247C>G

1 paper

NM_024675.4

p.H83fs

c.247_248fs

3 papers

NM_024675.4

p.L82insFs

c.246dupA

2 papers

NM_024675.4

p.H83N

c.247C>A

1 paper

NM_024675.4

p.H83Q

c.249C>A

1 paper

NM_024675.4

p.H83fs

c.247_248fs

1 paper

NM_024675.4

p.D80_L82delFs

c.239_245del7