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.V2441A

c.7322T>C

Surrounding Variants

3 papers

NM_000051.4

p.V2441D

c.7322T>A

2 papers

NM_000051.4

p.V2441G

c.7322T>G

1 paper

NM_000051.4

p.V2441I

c.7321G>A

4 papers

NM_000051.4

p.V2441F

c.7321G>T

3 papers

NM_000051.4

p.K2440N

c.7320G>C

3 papers

NM_000051.4

p.K2440N

c.7320G>T

20 papers

NM_000051.4

p.Q2442P

c.7325A>C

3 papers

NM_000051.4

p.K2440R

c.7319A>G

1 paper

NM_000051.4

p.Q2442R

c.7325A>G

5 papers

NM_000051.4

p.K2440E

c.7318A>G

1 paper

NM_000051.4

p.V2439V

c.7317A>G

4 papers

NM_000051.4

p.R2443G

c.7327C>G