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.E916D

c.2748G>C

Surrounding Variants

1 paper

NM_024675.4

p.E916D

c.2748G>T

1 paper

NM_024675.4

p.E916fs

c.2746_2747fs

1 paper

NM_024675.4

p.E916E

c.2748G>A

16 papers

NM_024675.4

p.E916_V917Splc

c.2748+1G>T

1 paper

NM_024675.4

p.E916_V917Splc

c.2748+1G>C

12 papers

NM_024675.4

p.E916_V917Splc

c.2748+1G>A

1 paper

NM_024675.4

p.E916delFs

c.2747_2748delCT

1 paper

NM_024675.4

p.A915_E916delFs

c.2743_2747del5

2 papers

NM_024675.4

p.E916V

c.2747A>T

1 paper

NM_024675.4

p.E916G

c.2747A>G

1 paper

NM_024675.4

p.E916A

c.2747A>C

6 papers

NM_024675.4

p.E916_V917Splc

c.2748+2T>G