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.V849L

c.2545G>C

Surrounding Variants

1 paper

NM_000051.4

p.V849L

c.2545G>T

1 paper

NM_000051.4

p.E848G

c.2543A>G

1 paper

NM_000051.4

p.E848V

c.2543A>T

3 papers

NM_000051.4

p.V849_E850del1

c.2546_2548delTGG

1 paper

NM_000051.4

p.E850_D860del11

c.2548_2579del33

2 papers

NM_000051.4

p.E848K

c.2542G>A

11 papers

NM_000051.4

p.E848Q

c.2542G>C

1 paper

NM_000051.4

p.E848fs

c.2542_2543fs

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.E848*

c.2542G>T

2 papers

NM_000051.4

p.E848delFs

c.2543delA