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.D2672Y

c.8014G>T

Surrounding Variants

2 papers

NM_000051.4

p.D2672fs

c.8014_8015fs

6 papers

NM_000051.4

p.D2672A

c.8015A>C

1 paper

NM_000051.4

p.D2672G

c.8015A>G

2 papers

NM_000051.4

p.V2671V

c.8013G>A

1 paper

NM_000051.4

p.V2671G

c.8012T>G

2 papers

NM_000051.4

p.H2673Y

c.8017C>T

1 paper

NM_000051.4

p.V2671M

c.8011G>A

1 paper

NM_000051.4

p.V2671L

c.8011G>C

1 paper

NM_000051.4

p.V2671L

c.8011G>T

3 papers

NM_000051.4

p.V2671fs

c.8011_8012fs

3 papers

NM_000051.4

p.H2673R

c.8018A>G

2 papers

NM_000051.4

p.K2670_V2671Splc

c.8011-1G>A