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

12 papers

NM_007294.4

p.E638K

c.1912G>A

Surrounding Variants

4 papers

NM_007294.4

p.E638*

c.1912G>T

2 papers

NM_007294.4

p.E638_L639insA

c.1912_1916ins3

6 papers

NM_007294.4

p.E638fs

c.1912_1913fs

9 papers

NM_007294.4

p.T637T

c.1911T>C

1 paper

NM_007294.4

p.P634_T637delFs

c.1901_1910del10

2 papers

NM_007294.4

p.E638A

c.1913A>C

13 papers

NM_007294.4

p.E638delFs

c.1912delC

2 papers

NM_007294.4

p.T637I

c.1910C>T

1 paper

NM_007294.4

p.T637S

c.1910C>G

1 paper

NM_007294.4

p.N635_T637delFs

c.1905_1909del5

3 papers

NM_007294.4

p.N635_C636del2

c.1903_1907del6

2 papers

NM_007294.4

p.L639L

c.1915T>C