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.K673delFs

c.2019delG

Surrounding Variants

1 paper

NM_000051.4

p.K673fs

c.2017_2018fs

1 paper

NM_000051.4

p.K673K

c.2019G>A

3 papers

NM_000051.4

p.E672E

c.2016A>G

1 paper

NM_000051.4

p.E672D

c.2016A>T

1 paper

NM_000051.4

p.H674P

c.2021A>C

19 papers

NM_000051.4

p.H674R

c.2021A>G

1 paper

NM_000051.4

p.H674L

c.2021A>T

1 paper

NM_000051.4

p.H674H

c.2022C>T

4 papers

NM_000051.4

p.E672Q

c.2014G>C

1 paper

NM_000051.4

p.E672_K673insA

c.2014_2018ins3

1 paper

NM_000051.4

p.E672*

c.2014G>T

12 papers

NM_000051.4

p.Q675*

c.2023C>T