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.A407D

c.1220C>A

Surrounding Variants

1 paper

NM_007349.4

p.Q405*

c.1213C>T

1 paper

NM_007349.4

p.Q403delFs

c.1209delC

1 paper

NM_007349.4

p.Q403P

c.1208A>C

1 paper

NM_007349.4

p.Q412*

c.1234C>T

2 papers

NM_007349.4

p.H414ins2

c.1241_1242ins6

2 papers

NM_007349.4

p.Q413_H414del1

c.1239_1241delTGC

1 paper

NM_007349.4

p.Q413_H414del2

c.1237_1241del6

1 paper

NM_007349.4

p.P415P

c.1245G>A

1 paper

NM_007349.4

p.V416fs

c.1246_1247fs

1 paper

NM_007349.4

p.P421S

c.1261C>T

1 paper

NM_007349.4

p.P421fs

c.1261_1262fs

1 paper

NM_007349.4

p.Q423fs

c.1267_1268fs