Varaico: Literature-Extracted Genetic Variants

PAXIP1

125 papers

RefSeq Summary

This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome...

Pfam Domains

PTCB-BRCTaa 102–165UCSCtwin BRCT domain

BRCTaa 601–681UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 701–776UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 866–934UCSCBRCA1 C Terminus (BRCT) domain

BRCT_2aa 971–1067UCSCBRCT domain

Gene Aliases

HGNC Name

PAX interacting protein 1

HGNC Previous Symbol

PAXIP1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007349.4

p.Y19*

c.57C>A

Surrounding Variants

1 paper

NM_007349.4

p.A20insFs

c.58_59ins7

1 paper

NM_007349.4

p.D23delFs

c.69delG

2 papers

NM_007349.4

p.D25A

c.74A>C

1 paper

NM_007349.4

p.D3H

c.7G>C

1 paper

NM_007349.4

p.Y42N

c.124T>A

1 paper

NM_007349.4

p.A44S

c.130G>T

1 paper

NM_007349.4

p.H48Y

c.142C>T

1 paper

NM_007349.4

p.D53H

c.157G>C

1 paper

NM_007349.4

p.E61V

c.182A>T

2 papers

NM_007349.4

p.W75R

c.223T>C

2 papers

NM_007349.4

p.W75R

c.223T>A

1 paper

NM_007349.4

p.W75_V76insFs

c.225_226insAC