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

2 papers

NM_024675.4

p.H1170R

c.3509A>G

Surrounding Variants

21 papers

NM_024675.4

p.S1169_H1170delFs

c.3507_3508delGA

3 papers

NM_024675.4

p.H1170fs

c.3508_3509fs

1 paper

NM_024675.4

p.H1170H

c.3510T>C

12 papers

NM_024675.4

p.H1170fs

c.3508_3509fs

20 papers

NM_024675.4

p.H1170Y

c.3508C>T

2 papers

NM_024675.4

p.S1169fs

c.3505_3506fs

1 paper

NM_024675.4

p.S1169_H1170delFs

c.3505_3509del5

2 papers

NM_024675.4

p.L1171S

c.3512T>C

1 paper

NM_024675.4

p.S1169C

c.3506C>G

1 paper

NM_024675.4

p.L1171F

c.3513G>T

1 paper

NM_024675.4

p.L1171fs

c.3511_3512fs

1 paper

NM_024675.4

p.L1171F

c.3513G>C