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.S1490G

c.4468A>G

Surrounding Variants

1 paper

NM_000051.4

p.S1490N

c.4469G>A

1 paper

NM_000051.4

p.R1489R

c.4467T>C

1 paper

NM_000051.4

p.S1490_Q1500del11

c.4468_4499del33

1 paper

NM_000051.4

p.F1491_S1492delFs

c.4471_4474del4

11 papers

NM_000051.4

p.R1489H

c.4466G>A

3 papers

NM_000051.4

p.R1489L

c.4466G>T

13 papers

NM_000051.4

p.R1489C

c.4465C>T

2 papers

NM_000051.4

p.F1491L

c.4471T>C

1 paper

NM_000051.4

p.F1491V

c.4471T>G

1 paper

NM_000051.4

p.L1488L

c.4464A>G

2 papers

NM_000051.4

p.F1491L

c.4473C>A

2 papers

NM_000051.4

p.F1491L

c.4473C>G