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.R2792T

c.8375G>C

Surrounding Variants

9 papers

NM_000051.4

p.Y2791*

c.8373C>A

1 paper

NM_000051.4

p.P2793fs

c.8377_8378fs

7 papers

NM_000051.4

p.Y2791*

c.8373C>G

2 papers

NM_000051.4

p.P2793S

c.8377C>T

2 papers

NM_000051.4

p.Y2791C

c.8372A>G

1 paper

NM_000051.4

p.P2793L

c.8378C>T

1 paper

NM_000051.4

p.P2793_F2796del0

c.8379_8387del9

1 paper

NM_000051.4

p.Y2791D

c.8371T>G

1 paper

NM_000051.4

p.Y2791fs

c.8371_8372fs

4 papers

NM_000051.4

p.Y2791fs

c.8371_8372fs

1 paper

NM_000051.4

p.R2790S

c.8370A>C

1 paper

NM_000051.4

p.R2790S

c.8370A>T