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.D7Y

c.19G>T

Surrounding Variants

1 paper

NM_000051.4

p.D7H

c.19G>C

1 paper

NM_000051.4

p.D7insFs

c.19_20insA

1 paper

NM_000051.4

p.D7insFs

c.19_20insC

1 paper

NM_000051.4

p.D7fs

c.19_20fs

1 paper

NM_000051.4

p.D7_L8insG

c.19_23ins3

1 paper

NM_000051.4

p.D7insFs

c.19_20insT

1 paper

NM_000051.4

p.D7delFs

c.20delA

1 paper

NM_000051.4

p.D7insFs

c.20_21insG

3 papers

NM_000051.4

p.D7insFs

c.20_21insT

4 papers

NM_000051.4

p.D7G

c.20A>G

1 paper

NM_000051.4

p.L8delFs

c.22_23delCT

1 paper

NM_000051.4

p.N6K

c.18T>A