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.E2815D

c.8445G>C

Surrounding Variants

1 paper

NM_000051.4

p.E2815D

c.8445G>T

2 papers

NM_000051.4

p.E2815K

c.8443G>A

1 paper

NM_000051.4

p.E2815Q

c.8443G>C

2 papers

NM_000051.4

p.E2815fs

c.8443_8444fs

1 paper

NM_000051.4

p.E2815insFs

c.8443_8444insT

1 paper

NM_000051.4

p.E2815_D2822del8

c.8443_8465del24

7 papers

NM_000051.4

p.Y2817C

c.8450A>G

3 papers

NM_000051.4

p.E2814K

c.8440G>A

3 papers

NM_000051.4

p.E2814fs

c.8440_8441fs

2 papers

NM_000051.4

p.E2814delFs

c.8442delA

1 paper

NM_000051.4

p.Y2817*

c.8451T>A

2 papers

NM_000051.4

p.Y2817*

c.8451T>G