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.F2393L

c.7179T>A

Surrounding Variants

4 papers

NM_000051.4

p.F2393L

c.7179T>G

1 paper

NM_000051.4

p.F2393S

c.7178T>C

1 paper

NM_000051.4

p.F2393C

c.7178T>G

2 papers

NM_000051.4

p.S2394fs

c.7180_7181fs

25 papers

NM_000051.4

p.S2394L

c.7181C>T

5 papers

NM_000051.4

p.F2393I

c.7177T>A

4 papers

NM_000051.4

p.F2393L

c.7177T>C

1 paper

NM_000051.4

p.F2393_S2394insCT

c.7177_7181ins6

3 papers

NM_000051.4

p.S2394S

c.7182A>G

2 papers

NM_000051.4

p.S2394insFs

c.7180dupT

4 papers

NM_000051.4

p.D2395N

c.7183G>A

1 paper

NM_000051.4

p.R2392Q

c.7175G>A