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

4 papers

NM_000051.4

p.W2769R

c.8305T>A

Surrounding Variants

4 papers

NM_000051.4

p.W2769R

c.8305T>C

1 paper

NM_000051.4

p.W2769insFs

c.8305_8306insA

1 paper

NM_000051.4

p.W2769fs

c.8305_8306fs

2 papers

NM_000051.4

p.W2769fs

c.8305_8306fs

20 papers

NM_000051.4

p.W2769*

c.8306G>A

1 paper

NM_000051.4

p.W2769L

c.8306G>T

27 papers

NM_000051.4

p.W2769*

c.8307G>A

1 paper

NM_000051.4

p.C2770delFs

c.8308delT

1 paper

NM_000051.4

p.E2768K

c.8302G>A

2 papers

NM_000051.4

p.E2768Q

c.8302G>C

1 paper

NM_000051.4

p.E2768fs

c.8302_8303fs

3 papers

NM_000051.4

p.C2770G

c.8308T>G