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

6 papers

NM_000051.4

p.R447Q

c.1340G>A

Surrounding Variants

1 paper

NM_000051.4

p.R447L

c.1340G>T

1 paper

NM_000051.4

p.R447G

c.1339C>G

64 papers

NM_000051.4

p.R447*

c.1339C>T

1 paper

NM_000051.4

p.H448N

c.1342C>A

1 paper

NM_000051.4

p.H448_G449insGG

c.1342_1346ins6

1 paper

NM_000051.4

p.H448D

c.1342C>G

1 paper

NM_000051.4

p.H448Y

c.1342C>T

1 paper

NM_000051.4

p.Q446H

c.1338G>C

1 paper

NM_000051.4

p.Q446H

c.1338G>T

1 paper

NM_000051.4

p.Q446P

c.1337A>C

1 paper

NM_000051.4

p.Q446R

c.1337A>G

1 paper

NM_000051.4

p.Q446L

c.1337A>T