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

2 papers

NM_000051.4

p.I323R

c.968T>G

Surrounding Variants

1 paper

NM_000051.4

p.I323fs

c.967_968fs

3 papers

NM_000051.4

p.I323L

c.967A>C

24 papers

NM_000051.4

p.I323V

c.967A>G

1 paper

NM_000051.4

p.I323M

c.969A>G

1 paper

NM_000051.4

p.I323L

c.967A>T

1 paper

NM_000051.4

p.I323fs

c.967_968fs

1 paper

NM_000051.4

p.I323_S324delFs

c.968_971del4

1 paper

NM_000051.4

p.E322D

c.966G>C

1 paper

NM_000051.4

p.E322D

c.966G>T

1 paper

NM_000051.4

p.E322A

c.965A>C

1 paper

NM_000051.4

p.E322G

c.965A>G

2 papers

NM_000051.4

p.S324N

c.971G>A