Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.Q445L

c.1334A>T

Surrounding Variants

2 papers

NM_000051.4

p.Q445P

c.1334A>C

1 paper

NM_000051.4

p.Q445R

c.1334A>G

1 paper

NM_000051.4

p.Q445_Q446insFs

c.1335_1336insGG

1 paper

NM_000051.4

p.Q445Q

c.1335A>G

3 papers

NM_000051.4

p.Q446_G449del4

c.1336_1346del12

3 papers

NM_000051.4

p.Q445fs

c.1333_1334fs

5 papers

NM_000051.4

p.Q445*

c.1333C>T

2 papers

NM_000051.4

p.Q445fs

c.1333_1334fs

1 paper

NM_000051.4

p.P444P

c.1332C>A

1 paper

NM_000051.4

p.Q446K

c.1336C>A

5 papers

NM_000051.4

p.Q446*

c.1336C>T

1 paper

NM_000051.4

p.Q446_H448delFs

c.1337_1343del7