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.A2364fs

c.7090_7091fs

Surrounding Variants

2 papers

NM_000051.4

p.A2364P

c.7090G>C

1 paper

NM_000051.4

p.A2364delFs

c.7091delC

1 paper

NM_000051.4

p.A2364fs

c.7090_7091fs

1 paper

NM_000051.4

p.A2364E

c.7091C>A

1 paper

NM_000051.4

p.A2364V

c.7091C>T

1 paper

NM_000051.4

p.K2363_A2364Splc

c.7090-1G>A

1 paper

NM_000051.4

p.K2363_A2364Splc

c.7090-1G>T

1 paper

NM_000051.4

p.K2363_A2364Splc

c.7090-2A>C

1 paper

NM_000051.4

p.V2365fs

c.7093_7094fs

1 paper

NM_000051.4

p.E2366K

c.7096G>A

1 paper

NM_000051.4

p.E2366Q

c.7096G>C

12 papers

NM_000051.4

p.E2366*

c.7096G>T