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.E2007D

c.6021A>C

Surrounding Variants

1 paper

NM_000051.4

p.E2007D

c.6021A>T

3 papers

NM_000051.4

p.E2007A

c.6020A>C

4 papers

NM_000051.4

p.E2007G

c.6020A>G

1 paper

NM_000051.4

p.I2008V

c.6022A>G

1 paper

NM_000051.4

p.E2007K

c.6019G>A

1 paper

NM_000051.4

p.E2007fs

c.6019_6020fs

1 paper

NM_000051.4

p.E2007*

c.6019G>T

4 papers

NM_000051.4

p.E2007fs

c.6019_6020fs

1 paper

NM_000051.4

p.I2008T

c.6023T>C

1 paper

NM_000051.4

p.I2008insFs

c.6024dupC

1 paper

NM_000051.4

p.I2012insFs

c.6034_6035ins8

10 papers

NM_000051.4

p.Y2009H

c.6025T>C