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.R1768G

c.5302A>G

Surrounding Variants

1 paper

NM_000051.4

p.R1768R

c.5302A>C

1 paper

NM_000051.4

p.R1768K

c.5303G>A

1 paper

NM_000051.4

p.F1767F

c.5301T>C

1 paper

NM_000051.4

p.F1767_R1768insFs

c.5301_5302insA

1 paper

NM_000051.4

p.R1768delFs

c.5303_5304delGA

1 paper

NM_000051.4

p.F1767S

c.5300T>C

1 paper

NM_000051.4

p.F1767C

c.5300T>G

1 paper

NM_000051.4

p.T1769A

c.5305A>G

1 paper

NM_000051.4

p.F1767fs

c.5299_5300fs

2 papers

NM_000051.4

p.T1769K

c.5306C>A

3 papers

NM_000051.4

p.T1769I

c.5306C>T

1 paper

NM_000051.4

p.F1767_T1769del3

c.5299_5306del9