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.A1299insFs

c.3895_3896insT

Surrounding Variants

3 papers

NM_000051.4

p.A1299fs

c.3895_3896fs

13 papers

NM_000051.4

p.A1299fs

c.3895_3896fs

1 paper

NM_000051.4

p.Y1300_T1303del4

c.3898_3908del12

1 paper

NM_000051.4

p.A1299V

c.3896C>T

5 papers

NM_000051.4

p.A1299delFs

c.3895delG

1 paper

NM_000051.4

p.F1298S

c.3893T>C

2 papers

NM_000051.4

p.F1298fs

c.3892_3893fs

10 papers

NM_000051.4

p.Y1300C

c.3899A>G

1 paper

NM_000051.4

p.Y1297*

c.3891T>A

1 paper

NM_000051.4

p.Y1297Y

c.3891T>C

1 paper

NM_000051.4

p.Y1297*

c.3891T>G

27 papers

NM_000051.4

p.F1298_A1299insFs

c.3894_3895insT