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

2 papers

NM_000051.4

p.Q2615*

c.7843C>T

Surrounding Variants

1 paper

NM_000051.4

p.Q2615E

c.7843C>G

2 papers

NM_000051.4

p.Q2615R

c.7844A>G

1 paper

NM_000051.4

p.P2614H

c.7841C>A

4 papers

NM_000051.4

p.P2614L

c.7841C>T

1 paper

NM_000051.4

p.Q2615H

c.7845G>C

1 paper

NM_000051.4

p.Q2615H

c.7845G>T

3 papers

NM_000051.4

p.M2616V

c.7846A>G

1 paper

NM_000051.4

p.P2614fs

c.7840_7841fs

1 paper

NM_000051.4

p.P2614_Q2615insA

c.7840_7844ins3

1 paper

NM_000051.4

p.P2614S

c.7840C>T

1 paper

NM_000051.4

p.M2616T

c.7847T>C

2 papers

NM_000051.4

p.R2613K

c.7838G>A