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

53 papers

NM_007294.4

p.E1250K

c.3748G>A

Surrounding Variants

105 papers

NM_007294.4

p.E1250*

c.3748G>T

1 paper

NM_007294.4

p.T1249insFs

c.3747dupC

2 papers

NM_007294.4

p.N1235_T1249insFs

c.3705_3747dup43

1 paper

NM_007294.4

p.E1250Q

c.3748G>C

8 papers

NM_007294.4

p.A1248_T1249delFs

c.3744_3747del4

2 papers

NM_007294.4

p.I1237_A1248Fs

c.3710_3744delinsTFs

1 paper

NM_007294.4

p.E1250fs

c.3748_3749fs

12 papers

NM_007294.4

p.T1249T

c.3747C>T

2 papers

NM_007294.4

p.T1249_E1250insFs

c.3747_3748insA

3 papers

NM_007294.4

p.E1250G

c.3749A>G

6 papers

NM_007294.4

p.E1250D

c.3750G>T

2 papers

NM_007294.4

p.E1250fs

c.3748_3749fs