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.I1131T

c.3392T>C

Surrounding Variants

1 paper

NM_024675.4

p.I1131delFs

c.3392delA

5 papers

NM_024675.4

p.I1131V

c.3391A>G

1 paper

NM_024675.4

p.L1132*

c.3395T>A

1 paper

NM_024675.4

p.A1130V

c.3389C>T

1 paper

NM_024675.4

p.A1130P

c.3388G>C

1 paper

NM_024675.4

p.T1133fs

c.3397_3398fs

1 paper

NM_024675.4

p.T1133T

c.3399T>C

1 paper

NM_024675.4

p.A1128A

c.3384A>C

1 paper

NM_024675.4

p.C1127delFs

c.3381delA

1 paper

NM_024675.4

p.C1127W

c.3381T>G

1 paper

NM_024675.4

p.C1127*

c.3381T>A

2 papers

NM_024675.4

p.G1135A

c.3404G>C