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.N2697H

c.8089A>C

Surrounding Variants

3 papers

NM_000051.4

p.N2697D

c.8089A>G

1 paper

NM_000051.4

p.N2697S

c.8090A>G

3 papers

NM_000051.4

p.N2697K

c.8091T>A

3 papers

NM_000051.4

p.N2697K

c.8091T>G

2 papers

NM_000051.4

p.V2696L

c.8086G>C

2 papers

NM_000051.4

p.V2696L

c.8086G>T

2 papers

NM_000051.4

p.L2698F

c.8094A>C

2 papers

NM_000051.4

p.L2698F

c.8094A>T

9 papers

NM_000051.4

p.G2695D

c.8084G>A

19 papers

NM_000051.4

p.G2695A

c.8084G>C

5 papers

NM_000051.4

p.G2695V

c.8084G>T

3 papers

NM_000051.4

p.P2699T

c.8095C>A