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.E2744A

c.8231A>C

Surrounding Variants

1 paper

NM_000051.4

p.E2744G

c.8231A>G

3 papers

NM_000051.4

p.E2744K

c.8230G>A

1 paper

NM_000051.4

p.E2744_R2748del0

c.8231_8242del12

3 papers

NM_000051.4

p.T2743T

c.8229G>A

1 paper

NM_000051.4

p.T2743R

c.8228C>G

14 papers

NM_000051.4

p.T2743M

c.8228C>T

2 papers

NM_000051.4

p.T2745I

c.8234C>T

1 paper

NM_000051.4

p.E2744_R2748del5

c.8230_8243del15

1 paper

NM_000051.4

p.R2746fs

c.8236_8237fs

1 paper

NM_000051.4

p.R2746_K2747Fs

c.8236_8239delinsTCCCTFs

1 paper

NM_000051.4

p.T2743_K2747del5

c.8227_8240del15

1 paper

NM_000051.4

p.R2746M

c.8237G>T