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.V2757L

c.8269G>T

Surrounding Variants

5 papers

NM_000051.4

p.V2757M

c.8269G>A

1 paper

NM_000051.4

p.V2757L

c.8269G>C

1 paper

NM_000051.4

p.V2757fs

c.8269_8270fs

1 paper

NM_000051.4

p.K2756_V2757Splc

c.8269-1G>A

1 paper

NM_000051.4

p.V2757A

c.8270T>C

3 papers

NM_000051.4

p.V2757G

c.8270T>G

1 paper

NM_000051.4

p.K2756_V2757Splc

c.8269-2A>C

1 paper

NM_000051.4

p.K2756_V2757Splc

c.8269-2A>G

1 paper

NM_000051.4

p.K2756_V2757Splc

c.8269-2A>T

1 paper

NM_000051.4

p.V2758I

c.8272G>A

4 papers

NM_000051.4

p.V2758F

c.8272G>T

1 paper

NM_000051.4

p.V2757_Q2762del0

c.8269_8286del18