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

13 papers

NM_000051.4

p.E2444K

c.7330G>A

Surrounding Variants

1 paper

NM_000051.4

p.E2444fs

c.7330_7331fs

1 paper

NM_000051.4

p.E2444*

c.7330G>T

1 paper

NM_000051.4

p.E2444fs

c.7330_7331fs

1 paper

NM_000051.4

p.E2444A

c.7331A>C

1 paper

NM_000051.4

p.E2444V

c.7331A>T

44 papers

NM_000051.4

p.R2443Q

c.7328G>A

4 papers

NM_000051.4

p.R2443L

c.7328G>T

1 paper

NM_000051.4

p.L2445delFs

c.7333delC

1 paper

NM_000051.4

p.L2445_L2455del0

c.7335_7364del30

1 paper

NM_000051.4

p.L2445fs

c.7333_7334fs

4 papers

NM_000051.4

p.R2443G

c.7327C>G

68 papers

NM_000051.4

p.R2443*

c.7327C>T