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.Q368H

c.1104A>C

Surrounding Variants

1 paper

NM_000051.4

p.Q368Q

c.1104A>G

1 paper

NM_000051.4

p.Q368H

c.1104A>T

2 papers

NM_000051.4

p.S369A

c.1105T>G

1 paper

NM_000051.4

p.S369Y

c.1106C>A

2 papers

NM_000051.4

p.S369C

c.1106C>G

9 papers

NM_000051.4

p.Q368*

c.1102C>T

3 papers

NM_000051.4

p.S369F

c.1106C>T

1 paper

NM_000051.4

p.Y370del1

c.1108_1109delTAC

1 paper

NM_000051.4

p.S367Y

c.1100C>A

1 paper

NM_000051.4

p.S367insFs

c.1101dupT

1 paper

NM_000051.4

p.S367C

c.1100C>G

2 papers

NM_000051.4

p.S367F

c.1100C>T