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.D2987E

c.8961T>G

Surrounding Variants

1 paper

NM_000051.4

p.D2987E

c.8961T>A

2 papers

NM_000051.4

p.D2987H

c.8959G>C

2 papers

NM_000051.4

p.D2987Y

c.8959G>T

1 paper

NM_000051.4

p.D2987delFs

c.8960delA

1 paper

NM_000051.4

p.Q2989K

c.8965C>A

10 papers

NM_000051.4

p.Q2989E

c.8965C>G

4 papers

NM_000051.4

p.Q2989*

c.8965C>T

14 papers

NM_000051.4

p.E2990K

c.8968G>A

1 paper

NM_000051.4

p.E2990Q

c.8968G>C

1 paper

NM_000051.4

p.E2990insFs

c.8970dupA

2 papers

NM_000051.4

p.E2990*

c.8968G>T

2 papers

NM_000051.4

p.E2990G

c.8969A>G