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

4 papers

NM_000051.4

p.W164C

c.492G>C

Surrounding Variants

4 papers

NM_000051.4

p.W164*

c.492G>A

1 paper

NM_000051.4

p.W164_L165insFs

c.492_493insT

4 papers

NM_000051.4

p.W164C

c.492G>T

4 papers

NM_000051.4

p.W164*

c.491G>A

1 paper

NM_000051.4

p.W164insFs

c.491_492insT

1 paper

NM_000051.4

p.W164L

c.491G>T

2 papers

NM_000051.4

p.L165L

c.493T>C

1 paper

NM_000051.4

p.L165fs

c.493_494fs

1 paper

NM_000051.4

p.L165_E166insYKQ

c.493_497ins9

5 papers

NM_000051.4

p.W164R

c.490T>A

2 papers

NM_000051.4

p.L165*

c.494T>A

3 papers

NM_000051.4

p.W164R

c.490T>C