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.L991*

c.2972T>A

Surrounding Variants

1 paper

NM_000051.4

p.L991*

c.2972T>G

1 paper

NM_000051.4

p.L991_L995delFs

c.2973_2983del11

1 paper

NM_000051.4

p.N992H

c.2974A>C

1 paper

NM_000051.4

p.N992S

c.2975A>G

1 paper

NM_000051.4

p.N992I

c.2975A>T

2 papers

NM_000051.4

p.I990T

c.2969T>C

2 papers

NM_000051.4

p.I990V

c.2968A>G

1 paper

NM_000051.4

p.T989T

c.2967T>C

2 papers

NM_000051.4

p.H993R

c.2978A>G

1 paper

NM_000051.4

p.T989I

c.2966C>T

2 papers

NM_000051.4

p.T989A

c.2965A>G

1 paper

NM_000051.4

p.V994I

c.2980G>A