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

2 papers

NM_007294.4

p.E1358_Q1359insFs

c.4074_4075dupGC

Surrounding Variants

10 papers

NM_007294.4

p.Q1359*

c.4075C>T

2 papers

NM_007294.4

p.Q1359E

c.4075C>G

1 paper

NM_007294.4

p.E1358insFs

c.4074dupG

2 papers

NM_007294.4

p.Q1359K

c.4075C>A

1 paper

NM_007294.4

p.E1358delFs

c.4073_4074delCT

1 paper

NM_007294.4

p.E1358del1

c.4072_4074delCTC

3 papers

NM_007294.4

p.Q1359H

c.4077A>T

3 papers

NM_007294.4

p.Q1359H

c.4077A>C

3 papers

NM_007294.4

p.Q1359fs

c.4075_4076fs

1 paper

NM_007294.4

p.Q1359fs

c.4075_4076fs

1 paper

NM_007294.4

p.E1358E

c.4074G>A

4 papers

NM_007294.4

p.S1360fs

c.4078_4079fs