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.V4insFs

c.11_12insG

Surrounding Variants

1 paper

NM_000051.4

p.V4E

c.11T>A

3 papers

NM_000051.4

p.V4A

c.11T>C

1 paper

NM_000051.4

p.V4G

c.11T>G

9 papers

NM_000051.4

p.V4_L5insFs

c.12_13insA

1 paper

NM_000051.4

p.L5insFs

c.13dupC

3 papers

NM_000051.4

p.V4V

c.12A>G

2 papers

NM_000051.4

p.V4I

c.10G>A

2 papers

NM_000051.4

p.V4L

c.10G>C

1 paper

NM_000051.4

p.V4delins

c.10delinsGATAAGA

1 paper

NM_000051.4

p.V4insFs

c.11dupT

3 papers

NM_000051.4

p.V4L

c.10G>T

1 paper

NM_000051.4

p.V4delFs

c.11delT