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.T2608A

c.7822A>G

Surrounding Variants

1 paper

NM_000051.4

p.T2608_I2609del1

c.7824_7826delTAT

1 paper

NM_000051.4

p.I2609del1

c.7825_7826delATC

1 paper

NM_000051.4

p.I2609V

c.7825A>G

1 paper

NM_000051.4

p.C2607fs

c.7819_7820fs

2 papers

NM_000051.4

p.I2606M

c.7818A>G

2 papers

NM_000051.4

p.I2609T

c.7826T>C

3 papers

NM_000051.4

p.R2610delFs

c.7829_7830delGA

1 paper

NM_000051.4

p.R2610fs

c.7828_7829fs

1 paper

NM_000051.4

p.I2606L

c.7816A>C

15 papers

NM_000051.4

p.I2606V

c.7816A>G

1 paper

NM_000051.4

p.I2606L

c.7816A>T

2 papers

NM_000051.4

p.R2610fs

c.7828_7829fs