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.P2956L

c.8867C>T

Surrounding Variants

1 paper

NM_000051.4

p.P2956T

c.8866C>A

1 paper

NM_000051.4

p.L2957_F2958insG

c.8869_8873ins3

1 paper

NM_000051.4

p.L2957R

c.8870T>G

2 papers

NM_000051.4

p.F2958_D2959del2

c.8872_8876del6

1 paper

NM_000051.4

p.F2958_T2961del4

c.8872_8882del12

9 papers

NM_000051.4

p.F2958delFs

c.8873_8874delTT

1 paper

NM_000051.4

p.Y2954*

c.8862T>A

1 paper

NM_000051.4

p.Y2954*

c.8862T>G

3 papers

NM_000051.4

p.F2958fs

c.8872_8873fs

2 papers

NM_000051.4

p.F2958fs

c.8872_8873fs

14 papers

NM_000051.4

p.Y2954C

c.8861A>G

13 papers

NM_000051.4

p.F2958_D2959delFs

c.8874_8877del4