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.Q404insFs

c.1211_1212insT

Surrounding Variants

3 papers

NM_000051.4

p.Q404R

c.1211A>G

3 papers

NM_000051.4

p.Q404L

c.1211A>T

1 paper

NM_000051.4

p.Q404insFs

c.1211dupA

1 paper

NM_000051.4

p.Q404E

c.1210C>G

1 paper

NM_000051.4

p.Q404delFs

c.1211delA

4 papers

NM_000051.4

p.Q404_N405delFs

c.1212_1213delGA

1 paper

NM_000051.4

p.Q404_W412delFs

c.1211_1235del25

1 paper

NM_000051.4

p.Q404Q

c.1212G>A

2 papers

NM_000051.4

p.Q404H

c.1212G>C

2 papers

NM_000051.4

p.Q404H

c.1212G>T

3 papers

NM_000051.4

p.N405delFs

c.1214delA

5 papers

NM_000051.4

p.N405fs

c.1213_1214fs