Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007294.4

p.V1417L

c.4249G>T

Surrounding Variants

1 paper

NM_007294.4

p.V1417L

c.4249G>C

2 papers

NM_007294.4

p.V1417M

c.4249G>A

2 papers

NM_007294.4

p.V1417fs

c.4249_4250fs

1 paper

NM_007294.4

p.V1417E

c.4250T>A

3 papers

NM_007294.4

p.V1417V

c.4251G>A

2 papers

NM_007294.4

p.V1417delFs

c.4250delA

3 papers

NM_007294.4

p.A1416V

c.4247C>T

1 paper

NM_007294.4

p.A1416fs

c.4246_4247fs

10 papers

NM_007297.4

p.A1369T

c.4105G>A

NM_007294.4

p.A1416T

c.4246G>A

1 paper

NM_007294.4

p.E1415delFs

c.4245delT

6 papers

NM_007294.4

p.L1418fs

c.4252_4253fs

14 papers

NM_007294.4

p.L1418*

c.4253T>G