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.I2876F

c.8626A>T

Surrounding Variants

1 paper

NM_000051.4

p.I2876L

c.8626A>C

23 papers

NM_000051.4

p.N2875K

c.8625T>A

2 papers

NM_000051.4

p.I2876N

c.8627T>A

23 papers

NM_000051.4

p.N2875K

c.8625T>G

1 paper

NM_000051.4

p.I2876_L2877insFs

c.8626_8629dup4

7 papers

NM_000051.4

p.N2875T

c.8624A>C

34 papers

NM_000051.4

p.N2875S

c.8624A>G

5 papers

NM_000051.4

p.N2875H

c.8623A>C

2 papers

NM_000051.4

p.L2877insFs

c.8629_8630insC

1 paper

NM_000051.4

p.Q2874H

c.8622G>C

1 paper

NM_000051.4

p.Q2874H

c.8622G>T

1 paper

NM_000051.4

p.N2875delFs

c.8624delA