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

5 papers

NM_007294.4

p.I1680L

c.5038A>C

Surrounding Variants

1 paper

NM_007294.4

p.I1680fs

c.5038_5039fs

6 papers

NM_007294.4

p.I1680F

c.5038A>T

5 papers

NM_007294.4

p.I1680V

c.5038A>G

1 paper

NM_007294.4

p.L1679delFs

c.5036_5037delTA

1 paper

NM_007294.4

p.N1678_L1679delFs

c.5034_5037del4

6 papers

NM_007294.4

p.I1680S

c.5039T>G

5 papers

NM_007294.4

p.I1680T

c.5039T>C

7 papers

NM_007294.4

p.I1680delins

c.5038_5039delinsAA

1 paper

NM_007294.4

p.I1680Fs

c.5039delinsAAFs

6 papers

NM_007294.4

p.L1679fs

c.5035_5036fs

3 papers

NM_007294.4

p.L1676_L1679delFs

c.5026_5036del11

1 paper

NM_007294.4

p.I1680fs

c.5038_5039fs