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

2 papers

NM_000051.4

p.R62Splc

c.185+1G>C

Surrounding Variants

4 papers

NM_000051.4

p.R62Splc

c.185+1G>A

1 paper

NM_000051.4

p.R62Splc

c.185+1G>T

1 paper

NM_000051.4

p.R62insFs

c.185_186insA

1 paper

NM_000051.4

p.R62Splc

c.185+2T>C

6 papers

NM_000051.4

p.R62G

c.184A>G

3 papers

NM_000051.4

p.R62*

c.184A>T

1 paper

NM_000051.4

p.R62delFs

c.185delG

4 papers

NM_000051.4

p.F61L

c.183T>A

2 papers

NM_000051.4

p.R62Splc

c.185+4T>A

4 papers

NM_000051.4

p.F61L

c.183T>G

4 papers

NM_000051.4

p.F61_R62delins

c.183_184delinsCT

2 papers

NM_000051.4

p.F61S

c.182T>C