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

6 papers

NM_000051.4

p.D273D

c.819T>C

Surrounding Variants

1 paper

NM_000051.4

p.D273E

c.819T>A

1 paper

NM_000051.4

p.D273E

c.819T>G

1 paper

NM_000051.4

p.D273_V278delins

c.819_832delinsCTTCTTTTAAAGAA

1 paper

NM_000051.4

p.D273insFs

c.818_819insC

1 paper

NM_000051.4

p.D273G

c.818A>G

1 paper

NM_000051.4

p.S274A

c.820T>G

4 papers

NM_000051.4

p.S274fs

c.820_821fs

1 paper

NM_000051.4

p.S274fs

c.820_821fs

2 papers

NM_000051.4

p.S274Y

c.821C>A

1 paper

NM_000051.4

p.S274F

c.821C>T

16 papers

NM_000051.4

p.L275delFs

c.824delT

3 papers

NM_000051.4

p.D273N

c.817G>A