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

6 papers

NM_000051.4

p.E2423G

c.7268A>G

Surrounding Variants

1 paper

NM_000051.4

p.E2423A

c.7268A>C

1 paper

NM_000051.4

p.E2423V

c.7268A>T

1 paper

NM_000051.4

p.V2424insFs

c.7271_7272insGT

2 papers

NM_000051.4

p.E2423D

c.7269A>T

5 papers

NM_000051.4

p.E2423K

c.7267G>A

1 paper

NM_000051.4

p.E2423Q

c.7267G>C

1 paper

NM_000051.4

p.E2423fs

c.7267_7268fs

2 papers

NM_000051.4

p.E2423*

c.7267G>T

1 paper

NM_000051.4

p.V2424I

c.7270G>A

1 paper

NM_000051.4

p.V2424fs

c.7270_7271fs

3 papers

NM_000051.4

p.E2422G

c.7265A>G

1 paper

NM_000051.4

p.E2423delFs

c.7267delG