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

6 papers

NM_007294.4

p.F861C

c.2582T>G

Surrounding Variants

1 paper

NM_007294.4

p.F861S

c.2582T>C

1 paper

NM_007294.4

p.F861Y

c.2582T>A

1 paper

NM_007294.4

p.F861L

c.2581T>C

1 paper

NM_007294.4

p.F861L

c.2583C>G

1 paper

NM_007294.4

p.F861fs

c.2581_2582fs

1 paper

NM_007294.4

p.F861L

c.2583C>A

1 paper

NM_007294.4

p.K862fs

c.2584_2585fs

36 papers

NM_007294.4

p.K862E

c.2584A>G

2 papers

NM_007294.4

p.T860T

c.2580A>G

1 paper

NM_007294.4

p.T860fs

c.2578_2579fs

1 paper

NM_007294.4

p.T860I

c.2579C>T

1 paper

NM_007294.4

p.T860delFs

c.2578delT