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

2 papers

NM_000051.4

p.D851delFs

c.2551delG

Surrounding Variants

1 paper

NM_000051.4

p.E850E

c.2550G>A

1 paper

NM_000051.4

p.E850_D851insFs

c.2550_2551insC

1 paper

NM_000051.4

p.E850fs

c.2548_2549fs

5 papers

NM_000051.4

p.E850*

c.2548G>T

1 paper

NM_000051.4

p.D851_Q852del2

c.2551_2555del6

1 paper

NM_000051.4

p.D851N

c.2551G>A

1 paper

NM_000051.4

p.E850_D860del11

c.2548_2579del33

3 papers

NM_000051.4

p.D851G

c.2552A>G

1 paper

NM_000051.4

p.V849L

c.2545G>C

1 paper

NM_000051.4

p.V849L

c.2545G>T

1 paper

NM_000051.4

p.D851E

c.2553T>A

1 paper

NM_000051.4

p.D851E

c.2553T>G