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.N6fs

c.16_17fs

Surrounding Variants

1 paper

NM_000051.4

p.N6fs

c.16_17fs

1 paper

NM_000051.4

p.N6insFs

c.16_17insT

1 paper

NM_000051.4

p.D7del1

c.19_21delGAT

6 papers

NM_000051.4

p.N6insFs

c.17_18insT

1 paper

NM_000051.4

p.N6_D7insFs

c.18_19insTT

1 paper

NM_000051.4

p.N6I

c.17A>T

5 papers

NM_000051.4

p.N6delFs

c.18delT

3 papers

NM_000051.4

p.N6insFs

c.16_17insA

2 papers

NM_000051.4

p.N6delins

c.16delinsA

1 paper

NM_000051.4

p.N6K

c.18T>A

2 papers

NM_000051.4

p.N6N

c.18T>C

1 paper

NM_000051.4

p.L5P

c.14T>C