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

11 papers

NM_007294.4

p.L30F

c.90G>C

Surrounding Variants

11 papers

NM_007294.4

p.L30F

c.90G>T

2 papers

NM_007294.4

p.L30L

c.90G>A

1 paper

NM_007294.4

p.L30delins

c.89_90delinsAC

5 papers

NM_007294.4

p.L30W

c.89T>G

7 papers

NM_007294.4

p.L30S

c.89T>C

13 papers

NM_007294.4

p.L30*

c.89T>A

1 paper

NM_007294.4

p.C27_E29delFs

c.81_87del7

4 papers

NM_007294.4

p.I31F

c.91A>T

6 papers

NM_007294.4

p.I31V

c.91A>G

5 papers

NM_007294.4

p.I31L

c.91A>C

1 paper

NM_007294.4

p.I31insFs

c.91_92insT

1 paper

NM_007294.4

p.I31_K32ins12

c.91_95ins36