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.H762R

c.2285A>G

Surrounding Variants

1 paper

NM_024675.4

p.L760_A761del2

c.2278_2282del6

1 paper

NM_024675.4

p.H762fs

c.2284_2285fs

1 paper

NM_024675.4

p.H762H

c.2286T>C

2 papers

NM_024675.4

p.H762fs

c.2284_2285fs

3 papers

NM_024675.4

p.C756_A761insFs

c.2267_2283dup17

1 paper

NM_024675.4

p.A761_H762insFs

c.2283_2284ins17

1 paper

NM_024675.4

p.L763W

c.2288T>G

3 papers

NM_024675.4

p.L763*

c.2288T>A

18 papers

NM_024675.4

p.L763F

c.2289G>T

1 paper

NM_024675.4

p.L763fs

c.2287_2288fs

19 papers

NM_024675.4

p.L763F

c.2289G>C

1 paper

NM_024675.4

p.L763delFs

c.2287delA