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

5 papers

NM_000051.4

p.D2913H

c.8737G>C

Surrounding Variants

2 papers

NM_000051.4

p.D2913N

c.8737G>A

12 papers

NM_000051.4

p.D2913Y

c.8737G>T

1 paper

NM_000051.4

p.D2913fs

c.8737_8738fs

1 paper

NM_000051.4

p.D2913V

c.8738A>T

1 paper

NM_000051.4

p.R2912K

c.8735G>A

2 papers

NM_000051.4

p.D2913E

c.8739T>A

2 papers

NM_000051.4

p.D2913E

c.8739T>G

60 papers

NM_000051.4

p.R2912G

c.8734A>G

2 papers

NM_000051.4

p.I2914F

c.8740A>T

3 papers

NM_000051.4

p.T2911T

c.8733C>A

1 paper

NM_000051.4

p.D2913delFs

c.8737_8738delGA

1 paper

NM_000051.4

p.I2914N

c.8741T>A