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.E22E

c.66A>G

Surrounding Variants

1 paper

NM_000051.4

p.E22insFs

c.65_66ins4

2 papers

NM_000051.4

p.R23G

c.67C>G

50 papers

NM_000051.4

p.R23*

c.67C>T

8 papers

NM_000051.4

p.R23delFs

c.68_69delGA

21 papers

NM_000051.4

p.R23Q

c.68G>A

3 papers

NM_000051.4

p.E22K

c.64G>A

1 paper

NM_000051.4

p.E22insFs

c.66dupA

1 paper

NM_000051.4

p.E22ins2

c.64_65ins6

4 papers

NM_000051.4

p.E22*

c.64G>T

1 paper

NM_000051.4

p.R23L

c.68G>T

6 papers

NM_000051.4

p.R23_K24ins1

c.69_70insATT

1 paper

NM_000051.4

p.R23_K24insFs

c.69_70insC